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
Titre
Large genomic rearrangements in NIPBL are infrequent in Cornelia de Lange syndrome.
Périodique
European journal of human genetics
Auteur⸱e⸱s
Bhuiyan Z.A., Stewart H., Redeker E.J., Mannens M.M., Hennekam R.C.
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
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
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