M D'Urso

Publications (80)580.79 Total impact

• Article: Characterization of 2 novel and 2 recurring BRCA1 germline mutations in breast and/or ovarian carcinoma patients from the area of Naples.

  A Curci, I Capasso, A Romano, P Bruni, M L Motti, S Pignata, G D'Aiuto, A Casamassimi, M D'Urso, A Fusco, G Viglietto
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  ABSTRACT: We have analyzed 18 families with high incidence of breast cancer or breast and ovarian cancer for the presence of BRCA1 mutations. We identified 4 mutations in the BRCA1 gene in 4 unrelated probands who belong to families with at least 1 case of breast and 1 case of ovarian cancer. Two of the mutations reported in this study are novel (GAA(1172)-->TAA in family Naples 14, GAA(1765)-->TAA in family Naples 20) whereas the others are already present in the Breast Cancer Information Core Electronic Database (http://nchgr.nih.gov/ Intramural research/Lab transfer/Bic/) (5382insC in family Naples 18 and 2080delA in family Naples 19). Conversely, no mutation in the BRCA1 gene was detected in 14 families characterized by 2 or more cases of breast cancer only, even if bilateral and with early-onset. These results indicate that germline mutations in the BRCA1 gene highly predispose for a cancer syndrome that involves the presence of both breast and ovarian cancer.
  International Journal of Oncology 05/2002; 20(5):963-70. · 2.40 Impact Factor
• Article: Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome.

  S Kenwrick, H Woffendin, T Jakins, S G Shuttleworth, E Mayer, L Greenhalgh, J Whittaker, S Rugolotto, T Bardaro, T Esposito, [......], D Hamel-Teillac, S Lyonnet, J P Bonnefont, A Munnich, S Aradhya, C D Kashork, L G Shaffer, D L Nelson, M Levy, R A Lewis
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  ABSTRACT: Incontinentia pigmenti (IP), or "Bloch-Sulzberger syndrome," is an X-linked dominant disorder characterized by abnormalities of skin, teeth, hair, and eyes; skewed X-inactivation; and recurrent miscarriages of male fetuses. IP results from mutations in the gene for NF-kappaB essential modulator (NEMO), with deletion of exons 4-10 of NEMO accounting for >80% of new mutations. Male fetuses inheriting this mutation and other "null" mutations of NEMO usually die in utero. Less deleterious mutations can result in survival of males subjects, but with ectodermal dysplasia and immunodeficiency. Male patients with skin, dental, and ocular abnormalities typical of those seen in female patients with IP (without immunodeficiency) are rare. We investigated four male patients with clinical hallmarks of IP. All four were found to carry the deletion normally associated with male lethality in utero. Survival in one patient is explained by a 47,XXY karyotype and skewed X inactivation. Three other patients possess a normal 46,XY karyotype. We demonstrate that these patients have both wild-type and deleted copies of the NEMO gene and are therefore mosaic for the common mutation. Therefore, the repeat-mediated rearrangement leading to the common deletion does not require meiotic division. Hypomorphic alleles, a 47,XXY karyotype, and somatic mosaicism therefore represent three mechanisms for survival of males carrying a NEMO mutation.
  The American Journal of Human Genetics 01/2002; 69(6):1210-7. · 10.60 Impact Factor
• Article: MECP2 gene mutation analysis in the British and Italian Rett Syndrome patients: hot spot map of the most recurrent mutations and bioinformatic analysis of a new MECP2 conserved region.

  M Vacca, F Filippini, A Budillon, V Rossi, F Della Ragione, M L De Bonis, G Mercadante, E Manzati, F Gualandi, S Bigoni, [......], I Meloni, G Hayek, M Zappella, A Renieri, M D'Urso, M D'Esposito, F Macdonald, A Kerr, S Dhanjal, M Hulten
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  ABSTRACT: Rett syndrome (RTT) is an X-linked dominant neurological disorder, which appears to be the most common genetic cause of profound combined intellectual and physical disability in Caucasian females. This syndrome has been associated with mutations of the MECP2 gene, a transcriptional repressor of unknown target genes. We report a detailed mutational analysis of a large cohort of RTT patients from the UK and Italy. This study has permitted us to produce a hot spot map of the mutations identified. Bioinformatic analysis of the mutations, taking advantage of structural and evolutionary data, leads us to postulate the existence of a new functional domain in the MeCP2 protein, conserved among brain-specific regulatory factors.
  Brain and Development 01/2002; 23 Suppl 1:S246-50. · 2.12 Impact Factor
• Article: Differential divergence of three human pseudoautosomal genes and their mouse homologs: implications for sex chromosome evolution.

  F Gianfrancesco, R Sanges, T Esposito, S Tempesta, E Rao, G Rappold, N Archidiacono, J A Graves, A Forabosco, M D'Urso
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  ABSTRACT: The human pseudoautosomal region 1 (PAR1) is essential for meiotic pairing and recombination, and its deletion causes male sterility. Comparative studies of human and mouse pseudoautosomal genes are valuable in charting the evolution of this interesting region, but have been limited by the paucity of genes conserved between the two species. We have cloned a novel human PAR1 gene, DHRSXY, encoding an oxidoreductase of the short-chain dehydrogenase/reductase family, and isolated a mouse ortholog Dhrsxy. We also searched for mouse homologs of recently reported PGPL and TRAMP genes that flank it within PAR1. We recovered a highly conserved mouse ortholog of PGPL by cross-hybridization, but found no mouse homolog of TRAMP. Like Csf2ra and Il3ra, both mouse homologs are autosomal; Pgpl on chromosome 5, and Dhrsxy subtelomeric on chromosome 4. TRAMP, like the human genes within or near PAR1, is probably very divergent or absent in the mouse genome. We interpret the rapid divergence and loss of pseudoautosomal genes in terms of a model of selection for the concentration of repetitive recombinogenic sequences that predispose to high recombination and translocation.
  Genome Research 01/2002; 11(12):2095-100. · 13.61 Impact Factor
• Article: A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations.

  S Aradhya, H Woffendin, T Jakins, T Bardaro, T Esposito, A Smahi, C Shaw, M Levy, A Munnich, M D'Urso, R A Lewis, S Kenwrick, D L Nelson
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  ABSTRACT: Incontinentia pigmenti (IP) is an X-linked dominant disorder characterized by abnormal skin pigmentation, retinal detachment, anodontia, alopecia, nail dystrophy and central nervous system defects. This disorder segregates as a male lethal disorder and causes skewed X-inactivation in female patients. IP is caused by mutations in a gene called NEMO, which encodes a regulatory component of the IkappaB kinase complex required to activate the NF-kappaB pathway. Here we report the identification of 277 mutations in 357 unrelated IP patients. An identical genomic deletion within NEMO accounted for 90% of the identified mutations. The remaining mutations were small duplications, substitutions and deletions. Nearly all NEMO mutations caused frameshift and premature protein truncation, which are predicted to eliminate NEMO function and cause cell lethality. Examination of families transmitting the recurrent deletion revealed that the rearrangement occurred in the paternal germline in most cases, indicating that it arises predominantly by intrachromosomal misalignment during meiosis. Expression analysis of human and mouse NEMO/Nemo showed that the gene becomes active early during embryogenesis and is expressed ubiquitously. These data confirm the involvement of NEMO in IP and will help elucidate the mechanism underlying the manifestation of this disorder and the in vivo function of NEMO. Based on these and other recent findings, we propose a model to explain the pathogenesis of this complex disorder.
  Human Molecular Genetics 10/2001; 10(19):2171-9. · 7.64 Impact Factor
• Source

  Available from: David Loren Nelson

  Article: Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes.

  S Aradhya, T Bardaro, P Galgóczy, T Yamagata, T Esposito, H Patlan, A Ciccodicola, A Munnich, S Kenwrick, M Platzer, M D'Urso, D L Nelson
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  ABSTRACT: The X-linked dominant and male-lethal disorder incontinentia pigmenti (IP) is caused by mutations in a gene called NEMO (IKK-gamma). We recently reported the structure of NEMO and demonstrated that most IP patients carry an identical deletion that arises due to misalignment between repeats. Affected male abortuses with the IP deletion had provided clues that a second, incomplete copy of NEMO was present in the genome. We have now identified clones containing this truncated copy (Delta NEMO) and incorporated them into a previously constructed physical contig in distal Xq28. Delta NEMO maps 22 kb distal to NEMO and only contains exons 3-10, confirming our proposed model. A sequence of 26 kb 3' of the NEMO coding sequence is also present in the same position relative to the Delta NEMO locus, bringing the total length of the duplication to 35.5 kb. The LAGE2 gene is also located within this duplicated region, and a similar but unique LAGE1 gene is located just distal to the duplicated loci. Mapping and sequence information indicated that the duplicated regions are in opposite orientation. Analysis of the great apes suggested that the NEMO/LAGE2 duplication occurred after divergence of the lineage leading to present day humans, chimpanzees and gorillas, approximately 10-15 million years ago. Intriguingly, despite this substantial evolutionary history, only 22 single nucleotide differences exist between the two copies over the entire 35.5 kb, making the duplications >99% identical. This high sequence identity and the inverted orientations of the two copies, along with duplications of smaller internal sections within each copy, predispose this region to various genomic alterations. We detected four rearrangements that involved NEMO, Delta NEMO or LAGE1 and LAGE2. The high sequence similarity between the two NEMO/LAGE2 copies may be due to frequent gene conversion, as we have detected evidence of sequence transfer between them. Together, these data describe an unusual and complex genomic region that is susceptible to various types of pathogenic and polymorphic rearrangements, including the recurrent lethal deletion associated with IP.
  Human Molecular Genetics 10/2001; 10(22):2557-67. · 7.64 Impact Factor
• Article: Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains.

  M G Miano, F Testa, F Filippini, M Trujillo, I Conte, C Lanzara, J M Millán, C De Bernardo, B Grammatico, M Mangino, I Torrente, R Carrozzo, F Simonelli, E Rinaldi, V Ventruto, M D'Urso, C Ayuso, A Ciccodicola
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  ABSTRACT: X-linked Retinitis Pigmentosa (XLRP) shows a huge genetic heterogeneity with almost five distinct loci on the X chromosome. So far, only two XLRP genes have been identified, RPGR (or RP3) and RP2, being mutated in approximately 70% and 10% of the XLRP patients. Clinically there is no clearly significative difference between RP3 and RP2 phenotypes. In the attempt to assess the degree of involvement of the RP2 gene, we performed a complete mutation analysis in a cohort of patients and we identified five novel mutations in five different XLRP families. These mutations include three missense mutations, a splice site mutation, and a single base insertion, which, because of frameshift, anticipates a stop codon. Four mutations fall in RP2 exon 2 and one in exon 3. Evidence that such mutations are different from the 21 RP2 mutations described thus far suggests that a high mutation rate occurs at the RP2 locus, and that most mutations arise independently, without a founder effect. Our mutation analysis confirms the percentage of RP2 mutations detected so far in populations of different ethnic origin. In addition to novel mutations, we report here that a deeper sequence analysis of the RP2 product predicts, in addition to cofactor C homology domain, further putative functional domains, and that some novel mutations identify RP2 amino acid residues which are evolutionary conserved, hence possibly crucial to the RP2 function.
  Human Mutation 09/2001; 18(2):109-19. · 5.69 Impact Factor
• Source

  Available from: Maurizio D'Esposito

  Article: Longins: a new evolutionary conserved VAMP family sharing a novel SNARE domain.

  F Filippini, V Rossi, T Galli, A Budillon, M D'Urso, M D'Esposito
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  ABSTRACT: This article describes the discovery of a novel SNARE domain that might be involved in the regulation of membrane fusion. This domain is shared by a novel family of VAMPs called long VAMPs or longins. Members of this family are more conserved among eukaryotes than are classical VAMPs, possibly because of their underlying basic SNARE function.
  Trends in Biochemical Sciences 08/2001; 26(7):407-9. · 10.85 Impact Factor
• Article: Characterization of the murine orthologue of a novel human subtelomeric multigene family.

  F Gianfrancesco, G Falco, T Esposito, M Rocchi, M D'Urso
  Cytogenetics and cell genetics 02/2001; 94(1-2):98-100.
• Source

  Available from: Elisa Manzati

  Article: Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females.

  M Vacca, F Filippini, A Budillon, V Rossi, G Mercadante, E Manzati, F Gualandi, S Bigoni, C Trabanelli, G Pini, [......], I Meloni, G Hayek, M Zappella, A Renieri, M D'Urso, M D'Esposito, F MacDonald, A Kerr, S Dhanjal, M Hultén
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  ABSTRACT: Rett syndrome is an X-linked dominant neurological disorder, which appears to be the commonest genetic cause of profound combined intellectual and physical disability in Caucasian females. Recently, this syndrome has been associated with mutations of the MECP2 gene, a transcriptional repressor of still unknown target genes. Here we report a detailed mutational analysis of 62 patients from UK and Italian archives, representing the first comparative study among different populations and one of the largest number of cases so far analyzed. We review the literature on MECP2 mutations in Rett syndrome. This analysis has permitted us to produce a map of the recurrent mutations identified in this and previous studies. Bioinformatic analysis of the mutations, taking advantage of structural and evolutionary data, leads us to postulate the existence of a new functional domain in the MeCP2 protein, which is conserved among brain-specific regulatory factors.
  Journal of Molecular Medicine 02/2001; 78(11):648-55. · 4.67 Impact Factor
• Article: Filamin (FLN1), plexin (SEX), major palmitoylated protein p55 (MPP1), and von-Hippel Lindau binding protein (VBP1) are not involved in incontinentia pigmenti type 2.

  S Aradhya, P Ahobila, R A Lewis, D L Nelson, T Esposito, A Ciccodicola, T Bardaro, M D'Urso, H Woffendin, S Kenwrick, A Smahi, S Heuertz, A Munnich, N S Heiss, A Poustka, A H Chishti
  American Journal of Medical Genetics 10/2000; 94(1):79-84.
• Article: Human dbl proto-oncogene in 85 kb of xq26, and determination of the transcription initiation site.

  G Palmieri, V de Franciscis, A Casamassimi, G Romano, A Torino, P Pingitore, D Califano, G Santelli, A Eva, G Vecchio, M D'Urso, A Ciccodicola
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  ABSTRACT: The dbl oncogene is generated by substitution of the 5' portion of its normal counterpart with an unrelated human sequence. To analyze the genomic structure and transcriptional regulation of the dbl proto-oncogene, we have isolated human genomic clones containing the entire human proto-dbl gene, localized in Xq26. Restriction mapping of a 600kb YAC clone (yWXD311) placed proto-dbl about 50kb telomeric to the coagulation Factor IX gene. The genomic DNA fragment containing the 5' end of proto-dbl was subcloned into plasmid vectors and the nucleotide sequences of exon 1, the flanking intronic region and genomic DNA 5' of the first codon were determined. Sequence analysis of 85119bp from the region revealed the genomic structure of proto-dbl. It contains 25 exons coding for a 4.7kb transcript including large 5'- and 3'- (1218bp and 701bp, respectively) untranslated regions (UTRs). RNase protection and primer extension assays on RNA from medullary thyroid carcinoma (TT) cells, which normally express dbl, revealed a transcription start site 1218bp upstream of the ATG of the first exon. A 1.6kb genomic 5' of the translation start sites drives the expression of a CAT-reporter in transient transfections in the TT cell line, though lacking TATA or CAAT boxes.
  Gene 08/2000; 253(1):107-15. · 2.34 Impact Factor
• Article: Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium.

  A Smahi, G Courtois, P Vabres, S Yamaoka, S Heuertz, A Munnich, A Israël, N S Heiss, S M Klauck, P Kioschis, [......], H Woffendin, T Jakins, D Donnai, H Stewart, S J Kenwrick, S Aradhya, T Yamagata, M Levy, R A Lewis, D L Nelson
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  ABSTRACT: Familial incontinentia pigmenti (IP; MIM 308310) is a genodermatosis that segregates as an X-linked dominant disorder and is usually lethal prenatally in males. In affected females it causes highly variable abnormalities of the skin, hair, nails, teeth, eyes and central nervous system. The prominent skin signs occur in four classic cutaneous stages: perinatal inflammatory vesicles, verrucous patches, a distinctive pattern of hyperpigmentation and dermal scarring. Cells expressing the mutated X chromosome are eliminated selectively around the time of birth, so females with IP exhibit extremely skewed X-inactivation. The reasons for cell death in females and in utero lethality in males are unknown. The locus for IP has been linked genetically to the factor VIII gene in Xq28 (ref. 3). The gene for NEMO (NF-kappaB essential modulator)/IKKgamma (IkappaB kinase-gamma) has been mapped to a position 200 kilobases proximal to the factor VIII locus. NEMO is required for the activation of the transcription factor NF-kappaB and is therefore central to many immune, inflammatory and apoptotic pathways. Here we show that most cases of IP are due to mutations of this locus and that a new genomic rearrangement accounts for 80% of new mutations. As a consequence, NF-kappaB activation is defective in IP cells.
  Nature 06/2000; 405(6785):466-72. · 36.28 Impact Factor
• Article: Genomic rearrangement in NEMO impairs NF-B activation and is a cause of incontinentia pigmenti

  Asmae Smahi, G. Courtois, P. Vabres, S. Yamaoka, S. Heuertz, A. Munnich, A. Isra|[euml]|l, Nina S. Heiss, S. M. Klauck, P. Kioschis, [......], Hayley Woffendin, T. Jakins, D. Donnai, H. Stewart, S. J. Kenwrick, Swaroop Aradhya, T. Yamagata, M. Levy, R. A. Lewis, D. L. Nelson
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  ABSTRACT: Familial incontinentia pigmenti (IP; MIM 308310) is a genodermatosis that segregates as an X-linked dominant disorder and is usually lethal prenatally in males. In affected females it causes highly variable abnormalities of the skin, hair, nails, teeth, eyes and central nervous system. The prominent skin signs occur in four classic cutaneous stages: perinatal inflammatory vesicles, verrucous patches, a distinctive pattern of hyperpigmentation and dermal scarring
  Nature 05/2000; 405(6785):466-472. · 36.28 Impact Factor
• Article: A new de novo mutation of the connexin-32 gene in a patient with X-linked Charcot-Marie-Tooth type 1 disease.

  G Di Iorio, V Cappa, A Ciccodicola, S Sampaolo, A Ammendola, G Sanges, R Giugliano, M D'Urso
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  ABSTRACT: We report a 26-year-old Italian man with X-linked Charcot-Marie-Tooth (CMT) disease type 1 (CMT-X1) and a negative family history for neuromuscular diseases. Clinical and electrophysiological examinations of the patient's mother and siblings were normal. Molecular analysis by polymerase chain reaction--single-strand conformation polymorphism (PCR-SSCP) on genomic DNA from the patient and all members of his family revealed a C-to-T transition in codon 8 of exon 2 of the connexin-32 (Cx32) gene on the X chromosome only in the patient. This transition in the 5'-coding region, resulting in a Thr-Ile substitution, is likely to be the cause of CMT phenotype in our patient, and it represents a new de novo mutation of the Cx32 gene.
  Neurological Sciences 05/2000; 21(2):109-12. · 1.32 Impact Factor
• Article: Human homologue of the murine bare patches/striated gene is not mutated in incontinentia pigmenti type 2.

  S Aradhya, D L Nelson, N S Heiss, A Poustka, H Woffendin, S Kenwrick, T Esposito, A Ciccodicola, T Bardaro, M D'Urso, A Smahi, A Munnich, G E Herman, R A Lewis
  American Journal of Medical Genetics 04/2000; 91(3):241-4.
• Article: New ABCR mutations and clinical phenotype in Italian patients with Stargardt disease.

  F Simonelli, F Testa, G de Crecchio, E Rinaldi, A Hutchinson, A Atkinson, M Dean, M D'Urso, R Allikmets
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  ABSTRACT: To assess the mutation spectrum in the ABCR gene and clinical phenotypes in Italian families with autosomal recessive Stargardt disease (STGD1) and fundus flavimaculatus (FFM). Eleven families from southern Italy, including 18 patients with diagnoses of STGD1, were clinically examined. Ophthalmologic examination included kinetic perimetry, electrophysiological studies, and fluorescein angiography. DNA samples of the affected individuals and their family members were analyzed for variants in all 50 exons of the ABCR gene by a combination of single-strand conformation polymorphism analysis and direct sequencing techniques. TenABCR variants were identified in 16 (73%) of 22 mutant alleles of patients with STGD1. Five mutations of 10 that were found had not been previously described. The majority of variants represent missense amino acid substitutions, and all mutant alleles cosegregate with the disease in the respective families. These ABCR variants were not detected in 170 unaffected control individuals (340 chromosomes) of Italian origin. Clinical evaluation of these families affected by STGD1 showed an unusually high frequency of early age-related macular degeneration (AMD) in parents of patients with STGD1 (8/22; 36%), consistent with the hypothesis that some heterozygous ABCR mutations enhance susceptibility to AMD. Patients from southern Italy with Stargardt disease show extensive allelic heterogeneity of the ABCR gene, concordant with previous observations in patients with STGD1 from different ethnic groups. Half the mutations identified in this study had not been previously described in patients with STGD1. Screening of increasingly large numbers of patients would help to determine whether this can be explained by ethnic differences, or is an indicator of extensive allelic heterogeneity of ABCR in STGD1 and other eye diseases. In 6 (55%) of 11 families, the first-degree relatives of patients with STGD1 were diagnosed with early AMD, supporting the previous observation that some STGD1 alleles are also associated with AMD.
  Investigative Ophthalmology &amp Visual Science 04/2000; 41(3):892-7. · 3.60 Impact Factor
• Article: Differentially regulated and evolved genes in the fully sequenced Xq/Yq pseudoautosomal region.

  A Ciccodicola, M D'Esposito, T Esposito, F Gianfrancesco, C Migliaccio, M G Miano, M R Matarazzo, M Vacca, A Franzè, M Cuccurese, [......], A Curci, A Terracciano, A Torino, S Cocchia, G Mercadante, E Pannone, N Archidiacono, M Rocchi, D Schlessinger, M D'Urso
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  ABSTRACT: Human sex chromosomes, which are morphologically and genetically different, share few regions of homology. Among them, only pseudoautosomal regions (PARs) pair and recombine during meiosis. To better address the complex biology of these regions, we sequenced the telomeric 400 kb of the long arm of the human X chromosome, including 330 kb of the human Xq/YqPAR and the telomere. Sequencing reveals subregions with distinctive regulatory and evolutionary features. The proximal 295 kb contains two genes inactivated on both the inactive X and Y chromosomes [ SYBL1 and a novel homologue ( HSPRY3 ) of Drosophila sprouty ]. The GC-rich distal 35 kb, added in stages and much later in evolution, contains the X/Y expressed gene IL9R and a novel gene, CXYorf1, only 5 kb from the Xq telomere. These properties make Xq/YqPAR a model for studies of region-specific gene inactivation, telomere evolution, and involvement in sex-limited conditions.
  Human Molecular Genetics 03/2000; 9(3):395-401. · 7.64 Impact Factor
• Article: Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of delta7-sterol reductase in Italy and report of three novel mutations.

  D De Brasi, T Esposito, M Rossi, G Parenti, M P Sperandeo, A Zuppaldi, T Bardaro, M A Ambruzzi, L Zelante, A Ciccodicola, G Sebastio, M D'Urso, G Andria
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  ABSTRACT: The Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder of cholesterol biosynthesis characterised by facial dysmorphisms, mental retardation and multiple congenital anomalies. SLOS is caused by mutations of the human Delta7-sterol reductase (DHCR7) gene and, so far, 19 different mutations have been described. Among these, mutations impairing the activity of the C-terminus appear to be the most severe. Here we report the mutational analysis of the DHCR7 gene in nine Italian SLOS patients. The T93M mutation, previously reported in one patient, results the most frequent one (7/18 alleles) in our survey. Furthermore, we identified three novel mutations, two missense mutations (N407Y and E448K), and a 33 bp deletion spanning part of exon 5 and the donor splice site of intron 5.
  European Journal of HumanGenetics 01/2000; 7(8):937-40. · 4.40 Impact Factor
• Article: Mutation analysis of the DKC1 gene in incontinentia pigmenti.

  N S Heiss, A Poustka, S W Knight, S Aradhya, D L Nelson, R A Lewis, T Esposito, A Ciccodicola, M D'Urso, A Smahi, S Heuertz, A Munnich, P Vabres, H Woffendin, S Kenwrick
  Journal of Medical Genetics 12/1999; 36(11):860-2. · 6.36 Impact Factor