期刊
EUROPEAN JOURNAL OF HUMAN GENETICS
卷 13, 期 12, 页码 1261-1267出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/sj.ejhg.5201493
关键词
de novo mutation; lip pit; interferon regulatory factor 6; 1q32.2
The interferon regulatory factor 6 gene (IRF6) has been identified as the major Van der Woude (VWS) syndrome and popliteal pterygium (PPS) syndrome gene with mutations in the majority of the kindreds. We have studied altogether 17 kindreds from Sweden, Finland, Norway, Thailand and Singapore, and report here 10 mutations, six of them previously unseen. In two kindreds, we could document de novo mutations, both of them changing a codon for a glutamine residue to a stop. No mutation could be detected in the four VWS kindreds from Finland, suggesting a founder effect for a mutation in an atypical noncoding position. Our findings demonstrate that several distinct mutations occur in the Swedish population, and confirm the general notion of a broad spectrum of IRF6 mutations underlying the VWS/PPS phenotypes.
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