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Novel mutations in the IRF6 gene for Van der Woude syndrome.

Human genetics - 1 Oct 2003

Wang Xiaofang, Liu Jiali, Zhang Haibing, Xiao Mingzhen, Li Jinfeng, Yang Chunling, Lin Xianjun, Wu Zizhong, Hu Landian, Kong Xiangyin

Abstract excerpt

Van der Woude syndrome (VWS, OMIM 119300) is an autosomal dominant craniofacial disorder characterized by pits of the lower lip, hypodontia, and cleft lip and/or cleft palate. It is the most common form of syndromic orofacial clefting and has very high penetrance with varied expressivity. The disease locus for VWS has been mapped to a 1.6-cM region on 1q32-41 between D1S205 and D1S491. Recently, mutations have...

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China
Cleft Lip
Cleft Palate
Codon
Codon, Nonsense
Interferon Regulatory Factors

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation, Missense

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PMID: 12920575
DOI: 10.1007/s00439-003-0989-2

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