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 27â56% 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 5.2âkb deletion encompassing exons 41â42 of NIPBL. Our studies indicate that large NIPBL rearrangements do occur in CdLS but are likely to be infrequent events.
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We thank all patients and their parents, and all referring physicians for their cooperation in this study.
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Bhuiyan, Z., Stewart, H., Redeker, E. et al. Large genomic rearrangements in NIPBL are infrequent in Cornelia de Lange Syndrome. Eur J Hum Genet 15, 505â508 (2007). https://doi.org/10.1038/sj.ejhg.5201776
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DOI: https://doi.org/10.1038/sj.ejhg.5201776
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