AIMS: Cornelia de Lange syndrome (CdLS) is a dominant multisystem developmental disorder and related to mutations of the NIPBL, SMC1A, and SMC3 genes. So far, there has been no report of a mutation analysis in Chinese patients with CdLS, while 12 cases have been clinically described. In the present study, we tried to search for pathogenic mutations of the NIPBL, SMC1A, and SMC3 genes in four patients with CdLS from four unrelated Chinese families. RESULTS: The mutational analysis of the NIPBL, SMC1A, and SMC3 genes by direct sequencing revealed a heterozygous splice-site mutation c.4321G>T(p.V1441L) at exon 20 of NIPBL in proband 2 and a novel heterozygous splice-site mutation c.6589+5G>C at intron 38 of NIPBL in proband 3, which was showed by reverse transcription polymerase chain reaction to generate both the full-length and an alternatively spliced transcript with an exon 38 deletion. CONCLUSIONS: This is the first report of the mutation analysis of NIPBL in China and our findings both expand the mutation spectrum of NIPBL and provide data for further understanding of the diverse and variable effects of NIPBL mutations.
AIMS: Cornelia de Lange syndrome (CdLS) is a dominant multisystem developmental disorder and related to mutations of the NIPBL, SMC1A, and SMC3 genes. So far, there has been no report of a mutation analysis in Chinese patients with CdLS, while 12 cases have been clinically described. In the present study, we tried to search for pathogenic mutations of the NIPBL, SMC1A, and SMC3 genes in four patients with CdLS from four unrelated Chinese families. RESULTS: The mutational analysis of the NIPBL, SMC1A, and SMC3 genes by direct sequencing revealed a heterozygous splice-site mutation c.4321G>T(p.V1441L) at exon 20 of NIPBL in proband 2 and a novel heterozygous splice-site mutation c.6589+5G>C at intron 38 of NIPBL in proband 3, which was showed by reverse transcription polymerase chain reaction to generate both the full-length and an alternatively spliced transcript with an exon 38 deletion. CONCLUSIONS: This is the first report of the mutation analysis of NIPBL in China and our findings both expand the mutation spectrum of NIPBL and provide data for further understanding of the diverse and variable effects of NIPBL mutations.
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Authors: Jorge Oliveira; Cristina Dias; Egbert Redeker; Eurico Costa; João Silva; Margarida Reis Lima; Johan T den Dunnen; Rosário Santos Journal: Hum Mutat Date: 2010-11 Impact factor: 4.878
Authors: Ian D Krantz; Jennifer McCallum; Cheryl DeScipio; Maninder Kaur; Lynette A Gillis; Dinah Yaeger; Lori Jukofsky; Nora Wasserman; Armand Bottani; Colleen A Morris; Malgorzata J M Nowaczyk; Helga Toriello; Michael J Bamshad; John C Carey; Eric Rappaport; Shimako Kawauchi; Arthur D Lander; Anne L Calof; Hui-Hua Li; Marcella Devoto; Laird G Jackson Journal: Nat Genet Date: 2004-05-16 Impact factor: 38.330
Authors: A Selicorni; S Russo; C Gervasini; P Castronovo; D Milani; F Cavalleri; A Bentivegna; M Masciadri; A Domi; M T Divizia; C Sforzini; E Tarantino; L Memo; G Scarano; L Larizza Journal: Clin Genet Date: 2007-08 Impact factor: 4.438