Large genomic rearrangements in NIPBL are infrequent in Cornelia de Lange syndrome.

Details

Serval ID
serval:BIB_0A39B59D8236
Type
Article: article from journal or magazin.
Collection
Publications
Title
Large genomic rearrangements in NIPBL are infrequent in Cornelia de Lange syndrome.
Journal
European journal of human genetics
Author(s)
Bhuiyan Z.A., Stewart H., Redeker E.J., Mannens M.M., Hennekam R.C.
ISSN
1018-4813 (Print)
ISSN-L
1018-4813
Publication state
Published
Issued date
04/2007
Peer-reviewed
Oui
Volume
15
Number
4
Pages
505-508
Language
english
Notes
Publication types: Case Reports ; Journal Article
Publication Status: ppublish
Abstract
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.

Keywords
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
Yes
Create date
01/03/2018 16:35
Last modification date
20/08/2019 13:32
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