Jung Min Ko

Seoul National University Hospital, Sŏul, Seoul, South Korea

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Publications (68)98.73 Total impact

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    ABSTRACT: Hajdu-Cheney syndrome (HCS) and serpentine fibula-polycystic kidney syndrome (SFPKS) share many similarities, including craniofacial abnormalities, bony deformities, and renal involvement. Because mutations in exon 34 of NOTCH2 have been identified recently in both HCS and SFPKS patients, it has been suggested that these two syndromes be classed as the same disorder. A 3-year-old boy presented with polycystic kidneys and club feet detected during the fetal period; however, acroosteolysis and curved fibulae were not observed. His mother showed osteoporosis and had a history of compression fractures in the spine without renal anomalies. Although the same novel mutation in NOTCH2 was found in both the mother and her son, these patients displayed different clinical manifestations. In this report, we present a familial case of HCS in a boy and his mother that was suspected on physical examination and radiological findings. We speculate that HCS and SFPKS are a single disease entity with a wide spectrum of clinical manifestations associated with truncating mutations in exon 34 of NOTCH2. © 2015 by the Association of Clinical Scientists, Inc.
    Annals of clinical and laboratory science 12/2015; 45(1):110-4. · 0.84 Impact Factor
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    ABSTRACT: Ornithine transcarbamylase (OTC) deficiency is an X-linked inborn error of the urea cycle that leads to the accumulation of ammonia, resulting in neurological deficits. This study was performed to describe the clinical outcomes, biochemical features and molecular spectra of patients with OTC deficiency. A total of 49 patients from 47 unrelated Korean pedigrees were included who were diagnosed with OTC deficiency based on biochemical findings and molecular analyses. Patient clinical features, biochemical findings and molecular data were analyzed retrospectively. Males with neonatal-onset phenotype presented with seizure or altered mentality (n=20). Biochemical findings showed high blood ammonia (1132.5±851.6 μmol l(-1)) and urine orotic acid (1840.7±1731.3 mmol mol(-1) Cr) levels. There were also five males with late-onset disease who presented with vomiting, irritability and seizure at age 8.2±9.4 years old (range, 0.6-20 years). Symptomatic females presented with vomiting, seizure, and altered mentality at age 3.5±3.5 years (range, 0.2-12.8 years; n=24). More males with the late-onset form and symptomatic females displayed mild hyperammonemia and orotic aciduria compared with those showing a neonatal phenotype (P<0.05). Molecular analysis identified 37 different mutations (22 missense, 5 large deletions, 4 small deletions, 1 insertion, 3 nonsense and 2 splice sites) from all 49 patients; the mutations were dispersed throughout all coding exons. In Korean patients with OTC deficiency, mutations in OTC are genetically heterogeneous. Male patients with the neonatal-onset phenotype showed poor outcomes because of severe hyperammonemia. Early diagnosis and interventions for hyperammonemia can provide more favorable prognosis.Journal of Human Genetics advance online publication, 21 May 2015; doi:10.1038/jhg.2015.54.
    Journal of Human Genetics 05/2015; DOI:10.1038/jhg.2015.54 · 2.53 Impact Factor
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    ABSTRACT: Gaucher disease is a lysosomal storage disease for which enzyme replacement therapy has proven to be effective. A switch-over clinical trial was performed to evaluate the efficacy and safety of Abcertin® (ISU Abxis, Seoul, Korea) in subjects with type 1 Gaucher disease who were previously treated with imiglucerase. Five Korean patients with type 1 Gaucher disease were enrolled. Previous doses of imiglucerase ranged from 30 to 55 U/kg every other week. The same dose of Abcertin® was administered to all patients for 24 weeks. Primary efficacy endpoints were changes in hemoglobin levels and platelet counts, and the secondary efficacy endpoints included changes in liver and spleen volumes, serum biomarkers, skeletal status and bone mineral density (BMD). During the study period, no statistically significant changes were observed in all parameters including hemoglobin levels and platelet counts, liver and spleen volumes, skeletal status and BMD. Abcertin® administration was continued in three patients for another 24 weeks as an extension of the study. Hemoglobin levels and platelet counts were maintained in all three patients. In conclusion, the efficacy and safety of Abcertin® are similar to those of imiglucerase, and Abcertin® is an effective therapeutic agent for patients with type 1 Gaucher disease (Clinical Trial Registry No. NCT02053896 at www.clinicaltrials.gov).
    Journal of Korean medical science 04/2015; 30(4):378-84. DOI:10.3346/jkms.2015.30.4.378 · 1.25 Impact Factor
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    ABSTRACT: Chromosomal translocation of 2q37.1 just distal to the NPPC gene coding for C-type natriuretic peptide (CNP) and subsequent overproduction of CNP have been reported to cause a skeletal overgrowth syndrome. Loeys-Dietz syndrome (LDS) is one of marfanoid overgrowth syndromes, of which subtype IV is caused by haploinsufficiency of transforming growth factor beta 2 (TGFB2). We report on a girl with clinical phenotypes of overgrowth syndrome, including long and slim body habitus, macrodactyly of the big toe, scoliosis, ankle valgus deformity, coxa valga, slipped capital femoral epiphysis, and aortic root dilatation. Karyotyping revealed a balanced chromosomal translocation between 1q41 and 2q37.1, and the breakpoints could be mapped by targeted resequencing analysis. On chromosome 2q37.1, the translocation took place 200,365 bp downstream of NPPC, and serum level of the amino terminal of CNP was elevated. The contralateral site of translocation on chromosome 1q41 disrupted TGFB2 gene, presumed to cause its haploinsufficiency. This case supports the concept that NPPC is overexpressed because of the loss of a specific negative regulatory control in the normal chromosomal location, and demonstrates the effectiveness of targeted resequencing in the mapping of breakpoints. © 2015 Wiley Periodicals, Inc. © 2015 Wiley Periodicals, Inc.
    American Journal of Medical Genetics Part A 02/2015; 167(5). DOI:10.1002/ajmg.a.36884 · 2.05 Impact Factor
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    ABSTRACT: Multiple pterygium syndrome (MPS) is an autosomal recessively inherited condition that becomes evident before birth, with pterygium at multiple joints and akinesia. There are two forms of this syndrome that are differentiated by clinical severity: the milder form, Escobar type (OMIM#265000), and the more severe form, lethal type (OMIM#253290). Mutations in CHRNG, which encode the acetylcholine receptor gamma subunit, cause most cases of MPS. Here, we present three patients from two unrelated families showing multiple joint contractures in both the upper and lower limbs. High-arched palates with malocclusion, short neck and micrognathia were observed in all patients. Peripheral blood karyotypes were normal. Whole-exome sequencing analysis of the patients' genomes led to the discovery of identical missense (p.Pro143Arg) and frameshift deletion variants (p.Pro251fs*45) on CHRNG. These were rare cases of congenital arthrogryposis multiplex related to novel recessive CHRNG variants in two Korean kindred without apparent relatedness.Journal of Human Genetics advance online publication, 22 January 2015; doi:10.1038/jhg.2015.2.
    Journal of Human Genetics 01/2015; 60(4). DOI:10.1038/jhg.2015.2 · 2.53 Impact Factor
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    ABSTRACT: Neurofibromatosis type 1 (NF1) caused by NF1 gene mutation is a commonly inherited autosomal dominant disorder. Malignant peripheral nerve sheath tumors (MPNSTs), a type of aggressive sarcoma, are a major cause of mortality in NF1 patients. The malignant transformation of benign plexiform neurofibromas (PNs) to MPNSTs is a marked peculiarity in NF1 patients, yet the pathogenesis remains poorly understood. We found that an actin-associated protein transgelin (SM22) was highly expressed in NF1-deficient MPNST tissues compared to NF1-deficient PN tissues using immunohistological staining and primary cultured MPNST cells in western blot analysis. We further found that this transgelin upregulation was caused by increased transcriptional expression of the TAGLN gene encoding transgelin. Comparison of DNA methylation values in the promoter and subpromoter regions of the TAGLN gene in three types of NF1-deficient primary-cultured cells, derived from an NF1 patient's normal phenotype, a benign PN and MPNST tissues, revealed that the TAGLN gene was hypomethylated in the MPNST cells. Next, to determine the functional role of transgelin in MPNST pathogenesis, we manipulated the TAGLN gene expression and investigated the alteration of the RAS-mitogen-activated protein kinase (MAPK) signaling pathway in the normal-phenotypic and malignant tumor cells. The downregulation of TAGLN expression in NF1-deficient MPNST tumor cells through the treatment of the small interfering RNA resulted in a decrease in the RAS activation (GTP-RAS) and the downstream ERK1/2 activation (phosphorylated ERK1/2), while the overexpression of TAGLN in normal-phenotypic NF1-deficient cells caused an increase in RAS and ERK1/2 activation. These results indicate that upregulation of transgelin caused by hypomethylation of the TAGLN gene is closely involved in tumor progression in NF1.
    Oncology Reports 08/2014; 32(4). DOI:10.3892/or.2014.3379 · 2.19 Impact Factor
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    ABSTRACT: Kisspeptin/G-protein couple receptor-54 (GPR54) system plays a key role in the activation of the gonadotropic axis at puberty. Central precocious puberty (CPP) is caused by the premature activation of hypothalamic gonadotropin-releasing hormone secretion. This study was aimed to identify KISS1 gene variations and to investigate the associations between KISS1 gene variations and CPP in Korean girls. All coding exons of KISS1 gene were sequenced in Korean girls with CPP (n = 143) and their healthy controls (n = 101). Nine polymorphisms were identified in KISS1 gene. A novel single-nucleotide polymorphism (SNP), 55648176 T/G, was identified for the first time. SNP 55648184 C/G and 55648186 -/T were detected more frequently in CPP group than in control group. SNP 55648176 T/G was detected less frequently in CPP group than in control group. Haplotype GGGC-ACCC was detected less frequently in CPP group. The genetic variations of KISS1 gene can be contributing factors of development of CPP. The association between the gene variations and CPP should be validated by further evidence obtained from large-scaled and functional studies. Graphical Abstract
    Journal of Korean Medical Science 08/2014; 29(8):1120-5. DOI:10.3346/jkms.2014.29.8.1120 · 1.25 Impact Factor
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    ABSTRACT: Arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome is an autosomal recessive disorder caused by mutations in the VPS33B and VIPAS39. Here, we report novel mutations identified in four patients with ARC syndrome. We analyzed the entire coding regions of the VPS33B and VIPAS39 genes by direct sequencing. To detect novel splice site mutations, mRNA transcripts were analyzed by reverse transcription-polymerase chain reaction (RT-PCR) and sequencing. All four patients had compound heterozygous variants in the VPS33B gene. One patient had a previously reported splice site variant with unknown significance, c.239+5G>A, and a novel nonsense mutation, c.621G>A. The other three patients had the c.403+2T>A mutation, and each of them carried one of the splice site variants, c.239+5G>A or c.499−11G>A. c.239+5G>A and c.499−11G>A created novel splice sites which resulted in abnormal transcripts. No significant VIPAS39 mutation was detected in all patients. In patients suspected with ARC syndrome, mutation analysis of the VPS33B gene should be employed as a primary diagnostic test before performing invasive testing procedures such as organ biopsies. Performing mRNA analysis can be useful in predicting the pathogenic phenotype when the mutation seems to affect a normal splicing mechanism.
    Clinical Genetics 06/2014; 88(1). DOI:10.1111/cge.12442 · 3.65 Impact Factor
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    ABSTRACT: The 46,XX testicular disorder of sex development (DSD), also known as 46,XX male syndrome, is a rare form of DSD and clinical phenotype shows complete sex reversal from female to male. The sex-determining region Y (SRY) gene can be identified in most 46,XX testicular DSD patients; however, approximately 20% of patients with 46,XX testicular DSD are SRY-negative. The SRY-box 9 (SOX9) gene has several important functions during testis development and differentiation in males, and overexpression of SOX9 leads to the male development of 46,XX gonads in the absence of SRY. In addition, SOX9 duplication has been found to be a rare cause of 46,XX testicular DSD in humans. Here, we report a 4.2-year-old SRY-negative 46,XX boy with complete sex reversal caused by SOX9 duplication for the first time in Korea. He showed normal external and internal male genitalia except for small testes. Fluorescence in situ hybridization and polymerase chain reaction (PCR) analyses failed to detect the presence of SRY, and SOX9 intragenic mutation was not identified by direct sequencing analysis. Therefore, we performed real-time PCR analyses with specific primer pairs, and duplication of the SOX9 gene was revealed. Although SRY-negative 46,XX testicular DSD is a rare condition, an effort to make an accurate diagnosis is important for the provision of proper genetic counseling and for guiding patients in their long-term management.
    06/2014; 19(2):108-12. DOI:10.6065/apem.2014.19.2.108
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    ABSTRACT: Kabuki syndrome (KS) (OMIM#147920) is a multiple congenital anomaly/mental retardation syndrome. Recently, pathogenic variants in KMT2D and KDM6A were identified as the causes of KS in 55.8-80.0% of patients. To elucidate further the molecular characteristics of Korean patients with KS, we screened a cohort of patients with clinically defined KS for mutations in KMT2D and KDM6A. Whole-exome sequencing and direct sequencing for validation were performed in 12 patients with a clinical suspicion of KS. KMT2D and KDM6A mutations were identified in 11 (91.7%) patients. No recurrent mutation was observed, and 10 out of the 11 mutations found were novel. KMT2D mutations were detected in 10 patients, including four small deletions or insertions and four nonsense and two missense mutations. One girl had a novel splice-site mutation in KDM6A. Each patient had a unique individual mutation. This is the first report of mutational analysis via exome sequencing in Korean patients with KS. Because the mutation-detection rate was high in this study, rigorous mutation analysis of KMT2D and KDM6A may be an important tool for the early diagnosis and genetic counseling of Korean patients with KS.Journal of Human Genetics advance online publication, 17 April 2014; doi:10.1038/jhg.2014.25.
    Journal of Human Genetics 04/2014; DOI:10.1038/jhg.2014.25 · 2.53 Impact Factor
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    ABSTRACT: Monochorionic (MC) pregnancy in humans is usually considered to be associated only with monozygotic twinning. However, several reports have revealed that dizygotic (DZ) twins can also share a chorion during pregnancy. A chimera is defined as an organism that contains different cells derived from two or more distinct zygotes. As artificial reproductive techniques develop, it can be predicted that the occurrence of MC DZ twins will increase, and DNA-fingerprinting methods, such as short tandem repeat (STR) analysis, will be essential for their accurate diagnosis. We report the first Korean case of MC DZ twins with blood chimerism, 46,XX/46,XY, as a consequence of in vitro fertilization/embryo transfer. The clinical phenotypes of the twins' genitalia were complete female and male, respectively. Monochorionicity was confirmed by pathological analysis of the placenta after delivery. The dizygosity and confined blood chimerism of the twins were confirmed by STR analysis using their peripheral lymphocytes and skin fibroblasts. The confined blood chimerism of the twins can be considered similar to the status of the hematopoietic system in patients after allogenic bone marrow transplantation. Conclusion: When MC twins with discordant sex are expected during pregnancy, it is important to consider the possibility of DZ twins showing normal sexual development, especially in twins who were fertilized using artificial reproductive techniques.
    European Journal of Pediatrics 04/2014; DOI:10.1007/s00431-014-2312-8 · 1.98 Impact Factor
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    ABSTRACT: Indium zinc oxide (IZO) thin films were fabricated via self-combustion of In and Zn salts coordinated with fuel and oxidizer ligands. The intense heat generated from the exothermic reaction compensated for the energy required for oxide formation and reduced the temperature required to anneal the oxide films. Thermal analysis of the fuel and oxidizer precursors confirmed the generation of exothermic heat at a relatively low annealing temperature. With the aid of the internal energy that evolved as heat from the combustion reaction, the formation of the metal–oxygen–metal lattice and the removal of organic ligands could be easily accomplished with lower amounts of externally supplied energy. IZO thin-film transistors (TFTs), obtained from this combustive In–Zn pair at a low annealing temperature of 350 C, showed a significantly enhanced field-effect mobility of 13.8 cm 2 V À1 s À1 and a high on/off current ratio of 1.06 Â 10 8 . Inkjet printing of the combustive precursors yielded TFTs with a high field-effect mobility of 5.3 cm 2 V À1 s À1 and an on/off ratio of 10 6 . The high performance, good device uniformity, and high yield of TFTs fabricated by our self-combustion method demonstrate the potential of the proposed system to facilitate the processing of flexible printed electronics.
    Journal of Materials Chemistry 03/2014; 2(21):4247. DOI:10.1039/c4tc00139g · 7.44 Impact Factor
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    ABSTRACT: Osteogenesis imperfecta (OI) is a group of genetic disorders characterized by bone fragility and connective tissue manifestations. We report a successful liver transplantation (LT) in an 8-month-old boy with OI and cholestatic biliary cirrhosis. After 4 cycles of intravenous pamidronate, LT was performed under intravenous anesthesia using a left lateral section from his mother without mechanical retractors. The operation time was 420 min and estimated blood loss was 520 mL requiring one unit of RBC transfusion. He was discharged without surgical complications. Therefore, LT should be considered for patients with end stage liver disease and OI under organic multidisciplinary cooperation. Graphical Abstract
    Journal of Korean medical science 03/2014; 29(3):441-4. DOI:10.3346/jkms.2014.29.3.441 · 1.25 Impact Factor
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    ABSTRACT: Abstract Purpose: Congenital hereditary endothelial dystrophy (CHED) is a rare genetic disorder caused by mutations in corneal endothelial cells. CHED can be divided into 2 types by the modes of inheritance; CHED type 1 (CHED1) with autosomal dominant inheritance and CHED type 2 (CHED2) with autosomal recessive inheritance. Mutations in the sodium bicarbonate transporter-like solute carrier family 4 member 11 (SLC4A11) gene result CHED2. Methods: A 37 years old female was clinically diagnosed as CHED2. Peripheral blood from the patient and her family members was obtained under informed consents. Genomic DNA was extracted in their WBCs, and whole exons and exon-intron boundaries of the SLC4A11 gene were amplified using polymerase chain reaction. The amplified materials were analyzed by direct sequencing method. Results: The sequencing results of the SLC4A11 gene showed a novel homozygous mutation in exon 9 (c.1158C > A, p.C386*) in the proband with CHED2 phenotype. Her father and sister showing normal cornea were heterozygous carriers of the mutation. Her mother showing late onset Fuchs endothelial corneal dystrophy (FECD) also had the same mutation heterozygously. Discussion: We report a novel nonsense mutation of the SLC4A11 gene in the patient with CHED2. In addition, one of heterozygous carriers in this family showed features of late onset FECD. Close clinical ocular examination for the heterozygous carriers should be performed to detect late onset FECD.
    Ophthalmic Genetics 02/2014; DOI:10.3109/13816810.2014.881510 · 1.23 Impact Factor
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    ABSTRACT: Sotos syndrome (SS) is a congenital overgrowth syndrome. NSD1 mutations are identifiable in most SS patients. There have been a few reports of familial inheritance of SS worldwide, but no familial cases have been reported in Korea. A 6-month-old girl had tall stature and macrocephaly with mild ventricular enlargement, and showed mild delay in motor and language development. Her mother also had tall stature and a long narrow face. The baby and her mother were suspected of having familial SS. Chromosome 5q35 microdeletion was first ruled out by fluorescence in situ hybridization analysis, and direct sequencing of NSD1 revealed a novel heterozygous mutation in exon 22 (c.6356delA; p.Asp2119Valfs*31). This report describes, for the first time, a Korean family with two generations of SS resulting from a novel intragenic NSD1 mutation.
    Annals of clinical and laboratory science 01/2014; 44(2):228-31. · 0.84 Impact Factor
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    ABSTRACT: Sotos syndrome (SS, OMIM 117550) is characterized by prenatal and postnatal overgrowth with multiple congenital anomalies. However, there have been few cases of growth retardation caused by renal failure from infancy. We report a case of dysplasia of the bilateral kidneys with renal failure and poor postnatal growth. A 2-month-old boy visited the emergency room owing to poor oral intake and abdominal distension. He was born at the gestational age of 38 weeks with a birth weight of 4,180 g. After birth, he had feeding difficulty and abdominal distension. Upon physical examination, his height and weight were in less than the 3rd percentile, while his head circumference was in the 50th percentile on the growth curve. He also showed a broad and protruding forehead and high hairline. Blood laboratory tests showed severe azotemia; emergent hemodialysis was needed. Abdominal ultrasonography revealed bilateral renal dysplasia with multiple cysts and diffuse bladder wall thickening. A posterior urethral valve was suggested based on vesicoureterography and abdominal magnetic resonance findings. Results of a colon study to rule out congenital megacolon did not reveal any specific findings. The conventional karyotype of the patient was 46, XY. Array comparative genomic hybridization study revealed a chromosome 5q35 microdeletion including the NSD1 gene, based on which SS was diagnosed. We describe a case of SS presenting with end stage renal disease due to posterior urethral valve. The typical somatic overgrowth of SS in the postnatal period was not observed due to chronic renal failure that started in the neonatal period.
    01/2014; 11(2):74. DOI:10.5734/JGM.2014.11.2.74
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    ABSTRACT: Maple syrup urine disease (MSUD) is a disorder that involves the metabolism of branched chain amino acids, arising from a defect in branched-chain α-keto acid dehydrogenase complex. Mutations have been identified in the BCKDHA, BCKDHB, or DBT genes, which encode different subunits of the BCKDH complex. Although encephalopathy and progressive neurodegeneration are its major manifestations, the severity of the disease may range from the severe classic type to milder intermediate variants. We report two Korean siblings with the milder intermediate MSUD who were diagnosed with MSUD by a combination of newborn screening tests using tandem mass spectrometry and family genetic screening for MSUD. At diagnosis, the patients' plasma levels were elevated for leucine, isoleucine, valine, and alloisoleucine, and branched-chain α-keto acids and branched-chain α-hydroxy acids were detected in their urine. BCKDHA, BCKDHB, and DBT analysis was performed, and two novel mutations were identified in BCKDHB. Our patients were thought to have the milder intermediate variant of MSUD, rather than the classic form. Although MSUD is a typical metabolic disease with poor prognosis, better outcomes can be expected if early diagnosis and prompt management are provided, particularly for milder forms of the disease.
    01/2014; 11(1):22. DOI:10.5734/JGM.2014.11.1.22
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    ABSTRACT: Bardet-Biedl syndrome (BBS) is a rare ciliopathy generally inherited with an autosomal recessive pattern. BBS is characterized by 6 primary features namely retinal dystrophy, obesity, postaxial polydactyly, renal dysfunction, learning difficulties, and hypogonadism and a wide range of secondary features. To date, mutations in 16 genes have been identified as causative factors for BBS. Among them, the BBS1 and BBS10 genes are major disease-causing genes, and each of these gene mutations presents in more than 20% of all BBS patients. Genotype-phenotype correlations have not been observed in BBS, and there can be phenotypic overlap between BBS and other ciliopathies. In Korea, no molecular, genetically confirmed case of BBS has been reported to date. Herein, we describe the case of the first Korean siblings with BBS resulting from 2 BBS10 gene mutations who showed typical clinical phenotypes, including retinal dystrophy, obesity, intellectual disability, cystic tubular disease, and postaxial polydactyly.
    01/2014; 11(1):31. DOI:10.5734/JGM.2014.11.1.31
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    ABSTRACT: Purpose: This study analyzed and evaluated the demographic, clinical, and cytogenetic data [G-banded karyotyping and array-based comparative genomic hybridization (array CGH)] of patients with unexplained developmental delay or intellectual disability at a single Korean institution. Materials and Methods: We collected clinical and cytogenetic data based on retrospective charts at Ajou University Medical Center, Suwon, Korea from April 2008 to March 2012. Results: A total of 190 patients were identified. Mean age was 5.1±1.87 years. Array CGH yielded abnormal results in 26 of 190 patients (13.7%). Copy number losses were about two-fold more frequent than gains. A total of 61.5% of all patients had copy number losses. The most common deletion disorders included 22q11.2 deletion syndrome, 15q11.2q12 deletion and 18q deletion syndrome. Copy number gains were identified in 34.6% of patients, and common diseases among these included Potocki-Lupski syndrome, 15q11-13 duplication syndrome and duplication 22q. Abnormal karyotype with normal array CGH results was exhibited in 2.6% of patients; theses included balanced translocation (n=2), inversion (n=2) and low-level mosaicism (n=1). Facial abnormalities (p<0.001) and failure to thrive were (p<0.001) also more frequent in the group of patients with abnormal CGH findings. Conclusion: Array CGH is a useful diagnostic tool in clinical settings in patients with developmental delay or intellectual disability combined with facial abnormalities or failure to thrive.
    Yonsei medical journal 11/2013; 54(6):1463-70. DOI:10.3349/ymj.2013.54.6.1463 · 1.26 Impact Factor
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    Jung Min Ko
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    ABSTRACT: Overgrowth syndromes comprise a diverse group of conditions with unique clinical, behavioral and molecular genetic features. While considerable overlap in presentation sometimes exists, advances in identification of the precise etiology of specific overgrowth disorders continue to improve clinicians' ability to make an accurate diagnosis. Among them, this paper introduces two classic genetic overgrowth syndromes: Sotos syndrome and Beckwith-Wiedemann syndrome. Historically, the diagnosis was based entirely on clinical findings. However, it is now understood that Sotos syndrome is caused by a variety of molecular genetic alterations resulting in haploinsufficiency of the NSD1 gene at chromosome 5q35 and that Beckwith-Wiedemann syndrome is caused by heterogeneous abnormalities in the imprinting of a number of growth regulatory genes within chromosome 11p15 in the majority of cases. Interestingly, the 11p15 imprinting region is also associated with Russell-Silver syndrome which is a typical growth retardation syndrome. Opposite epigenetic alterations in 11p15 result in opposite clinical features shown in Beckwith-Wiedemann syndrome and Russell-Silver syndrome. Although the exact functions of the causing genes have not yet been completely understood, these overgrowth syndromes can be good models to clarify the complex basis of human growth and help to develop better-directed therapies in the future.
    09/2013; 18(3):101-105. DOI:10.6065/apem.2013.18.3.101

Publication Stats

216 Citations
98.73 Total Impact Points

Institutions

  • 2012–2015
    • Seoul National University Hospital
      Sŏul, Seoul, South Korea
  • 2011–2015
    • Seoul National University
      • Department of Pediatrics
      Sŏul, Seoul, South Korea
  • 2013–2014
    • Korea Research Institute of Chemical Technology
      • Division of Advanced Material
      Daiden, Daejeon, South Korea
  • 2007–2013
    • Sungkyunkwan University
      • Department of Chemical Engineering
      Sŏul, Seoul, South Korea
    • Asan Medical Center
      • Department of Pediatrics
      Sŏul, Seoul, South Korea
  • 2009–2012
    • Ajou University
      Sŏul, Seoul, South Korea
  • 2008–2010
    • University of Ulsan
      • Department of Pediatrics
      Urusan, Ulsan, South Korea
    • Duksung Women's University
      • Department of Pharmacy
      Sŏul, Seoul, South Korea
  • 2007–2008
    • Ulsan University Hospital
      Urusan, Ulsan, South Korea