GÜVEN TOKSOY

GÜVEN TOKSOY
Istanbul University · Department of Medical Genetics (Istanbul Medical Faculty)

PhD

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54
Publications
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306
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Publications

Publications (54)
Article
INTRODUCTION: Objective: Androgen insensivity syndrome (AIS) and 5α-reductase deficiency (5α-RD) present with indistinguishable phenotypes among the 46,XY disorders of sexual development (DSD) that usually necessitate molecular analyses for the definitive diagnosis in the prepubertal period. The aim was to evaluate the clinical, hormonal and geneti...
Article
Full-text available
ABSTRACT Objective: In the research conducted during the pandemic period, it has been determined that IRF7, TBK1, IFNAR1, IFNAR2, and TLR3 immunity genes play an important role in the predisposition to SARS-CoV-2 infection. However, there is no information about variants of these genes in the Turkish population. The aim of this study was to determi...
Article
Objective: The aim of this study was to assess the prevalence of ovarian and paraovarian adrenal rest tumors (ARTs) in gonadectomy materials of a subgroup of congenital adrenal hyperplasia (CAH) patients. Methods: A total of 20 historical cases with clinical/molecular diagnosis of classical CAH were included in the study. All patients had 46,XX kar...
Article
Objective: Androgen insensivity syndrome (AIS) and 5α-reductase deficiency (5α-RD) present indistinguishable phenotypes among the 46,XY disorders of sexual development (DSD) that usually necessitate molecular analyses for the definitive diagnosis in prepubertal period . The aim was to evaluate the clinical, hormonal and genetic findings of 46,XY D...
Article
Multiple congenital contractures (MCC) comprise a number of rare, non‐progressive conditions displaying marked phenotypic and etiologic heterogeneity. A genetic cause can be established in approximately half of the affected individuals, attributed to genetic defects in the formation and functioning of the central and peripheral nervous system, neur...
Article
Background Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous group of diseases characterized by increased bone fragility and deformities. Although most patients with OI have heterozygous mutations in COL1A1 or COL1A2, 17 genes have been reported to cause OI, most of which are autosomal recessive (AR) inherited, during the l...
Article
Introduction The majority of Parkinson's disease (PD) ensue late-onset with a complex spectrum of environmental and genetic risk factors. Awareness of genetic causes in patients with PD is essential for genetic counseling and future genotype-oriented therapeutic developments. Methods Large pathogenic changes in eight PD-related genes and small pat...
Article
Three siblings born to Turkish parents from the same village had normal brain development until acute neurological deterioration between 12 months and 8 years of age. Consequent loss of all acquired motor, social, and language functions following infections was associated with a pontine cyst, calcification, and cerebellar atrophy. Exome sequencing...
Article
Loss or decrease of function in runt‐related transcription factor 2 encoded by RUNX2 is known to cause a rare autosomal‐dominant skeletal disorder, cleidocranial dysplasia (CCD). Clinical spectrum and genetic findings in 51 CCD patients from 30 unrelated families are herein presented. In a majority of the patients, facial abnormalities, such as del...
Article
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ZET Amaç: Hücre büyüme, farklılaşma, yaşlanma ve siklus düzenlen-mesinde önemli rol oynayan RAS-MAPK (Rat-sarcoma-Mitogen-activated protein -kinase) yolağında bulunan 29 gendeki dominant patojenik varyantların yol açtığı klinik grup "Rasopatiler" olarak adlandırılır. En sık gözleneni Noonan sendromu (NS)'dur. Olgu-ların ~%50'sinde NS ilişkili PTPN1...
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Background: There is evidence that alterations in functional connectivity (FC) of the striatocortical circuits may appear before the onset of clinical symptoms of Parkinson's disease (PD). Objective: The aim of this study was to investigate FC of the striatocortical circuitry in asymptomatic carriers of heterozygous glucocerebrosidase (GBA) muta...
Article
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Fanconi anemia (FA) is a rare multigenic chromosomal instability syndrome that predisposes patients to life-threatening bone marrow failure, congenital malformations, and cancer. Functional loss of interstrand cross-link (ICL) DNA repair system is held responsible, though the mechanism is not yet fully understood. The clinical and molecular finding...
Article
Introduction: Duchenne muscular dystrophy (DMD) has been found to be associated with cognitive impairment. However, few studies have investigated cognitive impairment of mothers of children with DMD. In the present study, the neuropsychological profiles of both carrier mothers (C-Ms) and non-carrier mothers (NC-Ms) were examined, and the findings...
Poster
Full-text available
Introduction: Oocyte maturation defect (OOMD) is a rare condition causing female infertility that can be diagnosed during assisted reproduction techniques (ART). OOMD related genes are ZP1, ZP2, ZP3, PANX1, PATL2, TUBB8, WEE2 (OMIM, 2020). We report a case of a 31-year-old woman who had four ART failures diagnosed as empty follicle syndrome and OOM...
Poster
Frontotemporal lobar degeneration (FTLD) is a heterogeneous disorder group associated with degeneration in the frontal/temporal lobes of brain. This study is aimed to determine the frequencies of mutations in MAPT, PGRN,CHMP2B,VCP,TARDBP and FUS genes, which are considered as the main genetic causes of FTLD in Turkish population and to investigate...
Article
Mucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disease caused by biallelic mutations in GALNS gene and characterized by progressive skeletal deformities with short stature. The aim of this study was to evaluate the genotype, longitudinal height measurement and clinical features of MPS IVA patients. Thirty-two patients from 22 families w...
Article
OBJECTIVE: Premature ovarian insufficiency is a lack of ovarian functions in patients younger than 40 years old. Genetic causes leading to accelerated follicle depletion may result in premature ovarian insufficiency. We aimed to determine genetic etiology of nonsyndromic premature ovarian insufficiency cases from Turkey. MATERIALS AND METHODS: We...
Article
Objective/Material and Method: Cryptic chromosomal imbalances contribute significantly to the etiology of multiple congenital anomalies with or without mental retardation (MCA/MR). Current approaches in prenatal diagnosis include targeted high resolution analyses by MLPA and some microarray platforms or a genomewide screening at maximal resolution...
Article
We genetically evaluated 260 dystrophinopathy patients from Turkey. Karyotyping as an initial test in female patients, followed stepwise by multiplex ligation-dependent probe amplification and by targeted next-generation sequencing of DMD revealed definitive genetic diagnoses in 214 patients (82%), with gross deletions/duplications in 153 (59%), pa...
Article
CLINICAL CLASSIFICATION OF RADIAL RAY DEFECTS AND RESEARCH INTO ETIOPATHOGENESIS Şahin Avcı [1] , Güven Toksoy [2] , Gülenadam Bağırova [3] , Umut Altunoğlu [4] , Birsen Karaman [5] , Seher Başaran [6] , Hülya Kayserili [7] , Z. Oya Uyguner [8] DOI: 10.26650/IUITFD.427250 Objective: Radial ray defects (RRDs) are the most common congenital abnorma...
Article
Primary coenzyme Q10 deficiency-6 (COQ10D6) is a rare autosomal recessive disorder caused by COQ6 mutations. The main clinical manifestations are infantile progressive nephrotic syndrome (NS) leading to end-stage renal disease and sensorineural deafness. A 7-year-old girl was diagnosed with steroid-resistant NS (SRNS) and an audiological work-up re...
Article
Introduction: Congenital adrenal hyperplasia (CAH) is an autosomal recessively transmitted disease and 95% of CAH cases are due to 21-hydroxylase deficiency (21-OHD). There are more than 100 mutations that cause CAH due to 21-OHD and the clinical expression of the disease is reported to correlate with mutated alleles. The aim: The aim of this stud...
Article
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Central precocious puberty (CPP) or early puberty (EP) is a rare entity in combined pituitary hormone deficiency (CPHD), the latter caused by mutations in pituitary transcription factor genes. The early onset of puberty in two patients with CPHD with POU1F1 gene mutation was evaluated. A 3-month-old boy was diagnosed with central hypothyroidism, an...
Article
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Background Pallister Killian syndrome (PKS, OMIM 601803) is a rare genetic disorder with a distinct phenotype caused by tissue- limited mosaicism tetrasomy of the short arm of chromosome 12, which usually cytogenetically presents as an extra isochromosome 12p. Wide phenotypic variability in PKS has been reported, ranging from pre-to perinatal death...
Article
Aim: To investigate genotype-phenotype correlation and to evaluate clinical characteristics and long-term outcomes of patients with 11BOHD. Methods: A total of 28 patients (n = 14, 46,XX; n = 14, 46,XY) with classical 11BOHD from 25 unrelated families were included in this study. Screening of CYP11B1 is performed by Sanger sequencing. Pathogenic...
Article
Full-text available
Background: 17-α-hydroxylase/17,20 lyase deficiency (17OHD) is a rare form of congenital adrenal hyperplasia (CAH), characterized by hypertension and varying degrees of ambiguous genitalia and delayed pu-berty. The disease is associated with bi-allelic mutations in theCYP17A1gene located on chromosome 10q24.3. We aimed to present clinical and gene...
Article
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Introduction Fibrodysplasia ossificans progressiva previously known as myositis ossificans progressiva is a rare connective tissue disorder with autosomal dominant genetic inheritance. Patients develop heterotrophic ossification starting with the first decade of life. Diagnosis is extremely difficult until ossifications are visible. Case Report We...
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Background Jervell and Lange-Nielsen syndrome (JLNS) isa recessive model of long QT syndrome which might also be related to possible hearing loss. Although the syndrome has been demonstrated to be originated from homozygous or compound heterozygous mutations in either the KCNQ1 or KCNE1 genes, additional mutations in other genetic loci should be co...
Article
Cleidocranial dysplasia (CCD) is an autosomal dominant disorder characterized by skeletal anomalies such as delayed closure of the cranial sutures, underdeveloped or absent clavicles, multiple dental abnormalities, short stature and osteoporosis. RUNX2, encoding Runt DNA-binding domain protein important in osteoblast differentiation, is the only kn...
Article
Moebius syndrome (MBS) is a rare congenital disorder characterized by rhombencephalic mal development, mainly presenting with facial palsy with limited gaze abduction. Most cases are sporadic, possibly caused by a combination of environmental and genetic factors; however, no proven specific associations have been yet established. Hereditary congeni...
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The default for the Commenting tool bar is set to 'off' in version 9. To change this setting select 'Edit | Preferences', then 'Documents' (at left under 'Categories'), then select the option 'Never' for 'PDF/A View Mode'. (Changing the default setting, Adobe version 9) To make annotations in the PDF file, open the PDF file using Adobe Reader XI, c...
Article
To investigate the specific mutations in PROP1, POU1F1, LHX3, and HESX1 genes in patients with combined pituitary hormone deficiency (CPHD) in Turkey. Seventy-six patients with CPHD were included in this study. Based on clinical, hormonal, and neuro-radiological data, relevant transcription factor genes were evaluated by Sanger sequencing and multi...
Article
Heterozygous loss-of-function mutations of GDF5 are reported to cause hypoplasia/aplasia of certain skeletal elements (brachydactyly), and heterozygous gain-of-function mutations, occurring either on the gene itself or through the loss of its inhibitor noggin, result in joint fusion (symphalangism). We present here the clinical and molecular invest...
Article
The prenatal diagnosis of congenital diaphragmatic eventration, pulmonary extralobar sequestration and intrathoracic ectopic kidney in a single fetus is not reported yet according to the pubmed. Congenital diaphragmatic eventration is an abnormal elevation of the diaphragm. Differential diagnosis from hernia is essential for the perinatal managemen...
Article
Moebius syndrome is a rare disorder primarily characterized by congenital facial palsy, frequently accompanied by ocular abduction anomalies, and occasionally associated with orofacial, limb and musculoskeletal malformations. Abnormal development of cranial nerves V through XII underlines the disease pathogenesis. Although some investigations sugge...
Article
Möbius syndrome is a rare disorder primarily characterized by congenital facial palsy, frequently accompanied by ocular abduction anomalies and occasionally associated with orofacial, limb and musculoskeletal malformations. Abnormal development of cranial nerves V through XII underlines the disease pathogenesis. Although a genetic etiology for Möbi...
Article
We report a patient with severe developmental delay, failure to thrive, microbrachycephaly, large anterior fontanel, ocular hypertelorism, broad nasal bridge, low-set ears, long philtrum, micrognathia, partial cleft palate, broad distal digits, abnormal palmar creases, joint contractures, and cardiovascular anomaly. Cytogenetic analysis with high r...
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Limb body wall complex is a spectrum of multiple severe anomalies. The etiopathogenesis and clinical classification are still under discussion. In our article, while reviewing previous etiopathogenetical hypothesis, we propose a new clinical classification regarding embryological theories and pheneotypical features. According to the Van Allen diagn...
Article
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Introduction: Procalcitonin (PCT) was originally described in 1984 as a 116 aminoacid protein with a molecular weight of 14.5 kDa. The PCT gene, referred to as Calc-1, is located on chromosome 11p15.4 and was sequenced in 1989. The promoter has sites for basal transcription factors but more interestingly, also has sites for Nuclear factor |[kappa]|...
Article
Small supernumerary marker chromosomes (sSMCs) are often associated with developmental abnormalities and malformations are de novo in approximately 60% of the cases. Fluorescence in situ hybridization (FISH) techniques using various probes provided the possibility to analyze and characterize sSMCs, which is highly important for prenatal diagnosis a...
Article
Intracranial germ cell tumors are rarely seen and typically localize in the pineal or suprasellar region. The largest category of germ cell tumors is the germinoma. There have been reported associations of malignant tumors and chromosomal abnormalities in germ cell tumors. In this study, we present a 22-year-old man with multiple congenital melanoc...
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To determine the incidence of chromosome abnormalities among couples for whom intracytoplasmic sperm injection (ICSI) treatment was indicated and fetuses conceived through the ICSI procedure. All cytogenetic results were evaluated retrospectively. Patients undergoing ICSI (n = 508) were classified according to the referring indications as: (1) male...
Article
In this study, the aims were to reveal the incidence of isolated choroid plexus cyst in our population, and to discuss the accuracy of distinguishing either an isolated or non-isolated choroid plexus cyst. The study population was consisted of 10594 pregnant women. The patients with choroid plexus cysts were classified into two groups: isolated and...

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Projects (2)
Project
Targeted mutation screenıng of Nephrotic syndrome and Alport syndrome with NGS application