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- Title
Large genomic rearrangements in NIPBL are infrequent in Cornelia de Lange Syndrome.
- Authors
Bhuiyan, Zahurul A.; Stewart, Helen; Redeker, Egbert J.; Mannens, Marcel M. A. M.; Hennekam, Raoul C. M.
- 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.European Journal of Human Genetics (2007) 15, 505–508. doi:10.1038/sj.ejhg.5201776; published online 31 January 2007
- Subjects
DE Lange's syndrome; GENETIC disorders; GENETIC code; GENETIC mutation; GENOMES; EXONS (Genetics); GENETICS
- Publication
European Journal of Human Genetics, 2007, Vol 15, Issue 4, p505
- ISSN
1018-4813
- Publication type
Article
- DOI
10.1038/sj.ejhg.5201776