title: Mutation analysis in Chinese patients with Cornelia de Lange syndrome.
abstract: OBJECTIVE
  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.
authors.affiliation: State Key Laboratory of Medical Genetics, Central South University, Changsha, P.R. China.
authors.forename: Qiulian
authors.initials: Q
authors.lastname: Zhong
authors.forename: Desheng
authors.initials: D
authors.lastname: Liang
authors.forename: Jing
authors.initials: J
authors.lastname: Liu
authors.forename: Jinjie
authors.initials: J
authors.lastname: Xue
authors.forename: Lingqian
authors.initials: L
authors.lastname: Wu
mesh_terms: D044466:Asian People / Q000235:genetics*; D018797:Cell Cycle Proteins; D002675:Child, Preschool; D002681:China; D004252:DNA Mutational Analysis; D003635:De Lange Syndrome / Q000235:genetics* / Q000473:pathology; D005091:Exons; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D011506:Proteins / Q000235:genetics*
chemical_list: D018797:Cell Cycle Proteins; C487465:NIPBL protein, human; D011506:Proteins