Mutation analysis in Chinese patients with Cornelia de Lange syndrome

Genet Test Mol Biomarkers. 2012 Sep;16(9):1130-4. doi: 10.1089/gtmb.2011.0383. Epub 2012 Aug 2.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Asian People / genetics*
  • Cell Cycle Proteins
  • Child, Preschool
  • China
  • DNA Mutational Analysis
  • De Lange Syndrome / genetics*
  • De Lange Syndrome / pathology
  • Exons
  • Female
  • Humans
  • Infant
  • Male
  • Mutation / genetics*
  • Pedigree
  • Phenotype
  • Proteins / genetics*


  • Cell Cycle Proteins
  • NIPBL protein, human
  • Proteins