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Published Online: 10 September 2012

Mutation Analysis in Chinese Patients with Cornelia de Lange Syndrome

Publication: Genetic Testing and Molecular Biomarkers
Volume 16, Issue Number 9

Abstract

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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References

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Published In

cover image Genetic Testing and Molecular Biomarkers
Genetic Testing and Molecular Biomarkers
Volume 16Issue Number 9September 2012
Pages: 1130 - 1134
PubMed: 22857006

History

Published online: 10 September 2012
Published in print: September 2012
Published ahead of print: 2 August 2012

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Qiulian Zhong
*
State Key Laboratory of Medical Genetics, Central South University, Changsha, P.R. China.
Desheng Liang*
State Key Laboratory of Medical Genetics, Central South University, Changsha, P.R. China.
Jing Liu
State Key Laboratory of Medical Genetics, Central South University, Changsha, P.R. China.
Jinjie Xue
State Key Laboratory of Medical Genetics, Central South University, Changsha, P.R. China.
Lingqian Wu
State Key Laboratory of Medical Genetics, Central South University, Changsha, P.R. China.

Notes

Address correspondence to:Lingqian Wu, M.D., Ph.D.State Key Laboratory of Medical GeneticsCentral South University110 Xiangya Road410078 ChangshaP.R. China
E-mail: [email protected]

Author Disclosure Statement

No competing financial interests exist.

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