TY - JOUR
T1 - Large genomic rearrangements in NIPBL are infrequent in Cornelia de Lange syndrome
AU - Bhuiyan, Zahurul A.
AU - Stewart, Helen
AU - Redeker, Egbert J.
AU - Mannens, Marcel M. A. M.
AU - Hennekam, Raoul C. M.
PY - 2007
Y1 - 2007
N2 - 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
AB - 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
U2 - https://doi.org/10.1038/sj.ejhg.5201776
DO - https://doi.org/10.1038/sj.ejhg.5201776
M3 - Article
C2 - 17264868
SN - 1018-4813
VL - 15
SP - 505
EP - 508
JO - European journal of human genetics
JF - European journal of human genetics
IS - 4
ER -