title: Novel mutations in the IRF6 gene for Van der Woude syndrome.
abstract: 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 been found in the interferon regulatory factor 6 ( IRF6) gene in patients with VWS and popliteal pterygium syndrome. To identify novel mutations of IRF6 in VWS patients, we screened four Chinese VWS families in all nine exons and their flanking splice junctions by direct sequencing. We identified three missense mutations and one nonsense mutation in IRF6. Our study further confirmed that IRF6 is essential for craniofacial development.
authors.affiliation: Health Science Center, Shanghai Institute for Biological Sciences, Chinese Academy of Science and Shanghai Second Medical University, 200025, Shanghai, People's Republic of China.
authors.forename: Xiaofang
authors.initials: X
authors.lastname: Wang
authors.forename: Jiali
authors.initials: J
authors.lastname: Liu
authors.forename: Haibing
authors.initials: H
authors.lastname: Zhang
authors.forename: Mingzhen
authors.initials: M
authors.lastname: Xiao
authors.forename: Jinfeng
authors.initials: J
authors.lastname: Li
authors.forename: Chunling
authors.initials: C
authors.lastname: Yang
authors.forename: Xianjun
authors.initials: X
authors.lastname: Lin
authors.forename: Zizhong
authors.initials: Z
authors.lastname: Wu
authors.forename: Landian
authors.initials: L
authors.lastname: Hu
authors.forename: Xiangyin
authors.initials: X
authors.lastname: Kong
mesh_terms: D001483:Base Sequence; D002681:China; D002874:Chromosome Mapping; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D003062:Codon / Q000235:genetics; D018389:Codon, Nonsense; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D050835:Interferon Regulatory Factors; D008297:Male; D009154:Mutation; D020125:Mutation, Missense; D010375:Pedigree; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D003062:Codon; D018389:Codon, Nonsense; D004268:DNA-Binding Proteins; C109803:IRF6 protein, human; D050835:Interferon Regulatory Factors; D014157:Transcription Factors