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A Novel Missense Mutation in Van der Woude Syndrome: Usefulness of Fingernail DNA for Genetic Analysis

¹ The Department of Oral and Maxillofacial Surgery II, Aichi-Gakuin University School of Dentistry, Nagoya, Japan;
² Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Sakamoto 1-12-4, Nagasaki 852-8523, Japan; and
³ SORST, Japan Science and Technology Agency (JST), Kawaguchi, Japan

View larger version (73K): [in a new window]   Figure 1. Pedigree of the family with VWS and haplotypes of the family members at the 1q32-q41 region. The numbers in boxes are haplotypes common to affected individuals. Horizontal lines indicate possible recombination points. Haplotype analysis strongly suggests the disease locus within a 26.2-cM interval between D1S2764 and D1S213 at 1q31-41. Haplotypes in two individuals (I-1 and I-2) are deduced from those of their children. The marker VWS is a CA-repeat marker designed from intron 3 of IRF6.

View larger version (62K): [in a new window]   Figure 2. Mutation(s) observed in VWS patient(s). (a) Sixty-four mutation sites in IRF6 among reported VWS patients. The numbers above or below bars show the numbers of patients with truncation-type and missense mutations, respectively. Arrow indicates the mutation site in the present family. Dark and light gray boxes in exons 3–4 and exons 7–9 indicate the DNA-binding-domain- and the SMIR/IAD-domain-coding regions, respectively. Note that all missense mutations were confined to the two domains, while truncation-type mutations were distributed throughout IRF6. (b) Electropherogram of a mutation (GAA>GTA transversion, 1046A>T) in the present family. (c) E349 in IRF6 is conserved from Danio rerio to Homo sapiens, as well as in IRF5 in Rattus norvegicus.