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  • Title: Large genomic rearrangements in NIPBL are infrequent in Cornelia de Lange syndrome.
    Author: Bhuiyan ZA, Stewart H, Redeker EJ, Mannens MM, Hennekam RC.
    Journal: Eur J Hum Genet; 2007 Apr; 15(4):505-8. PubMed ID: 17264868.
    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.
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