Large genomic rearrangements in NIPBL are infrequent in Cornelia de Lange syndrome.
Détails
ID Serval
serval:BIB_0A39B59D8236
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Large genomic rearrangements in NIPBL are infrequent in Cornelia de Lange syndrome.
Périodique
European journal of human genetics
ISSN
1018-4813 (Print)
ISSN-L
1018-4813
Statut éditorial
Publié
Date de publication
04/2007
Peer-reviewed
Oui
Volume
15
Numéro
4
Pages
505-508
Langue
anglais
Notes
Publication types: Case Reports ; Journal Article
Publication Status: ppublish
Publication Status: ppublish
Résumé
Cornelia de Lange Syndrome (CdLS) is a multiple congenital anomaly syndrome characterized by a distinctive facial appearance, malformations of the upper limbs, and delay in growth and development. Mutations in NIPBL are associated with CdLS in 27-56% of cases and have been reported as point mutations, small insertions and deletions in coding regions, regulatory regions and at splice junctions. All previous studies used PCR-based exon-scanning methodologies that do not allow detection of large genomic rearrangements. We studied the relative copy number of NIPBL exons in a series of 50 CdLS probands, negative for NIPBL mutations, by multiplex ligation-dependent probe amplification (MLPA). In a single patient, we found a 5.2 kb deletion encompassing exons 41-42 of NIPBL. Our studies indicate that large NIPBL rearrangements do occur in CdLS but are likely to be infrequent events.
Mots-clé
Adolescent, Adult, Child, Child, Preschool, Chromosomes, Human, Pair 9/genetics, Cohort Studies, DNA Mutational Analysis/methods, De Lange Syndrome/genetics, Exons/genetics, Female, Gene Deletion, Gene Rearrangement, Genome, Human, Humans, Infant, Male, Middle Aged, Nucleic Acid Amplification Techniques/methods, Pedigree, Phenotype, Proteins/genetics
Pubmed
Web of science
Open Access
Oui
Création de la notice
01/03/2018 16:35
Dernière modification de la notice
27/09/2021 11:16