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Article

Novel IRF6 mutations in Japanese patients with Van der Woude syndrome: two missense mutations (R45Q and P396S) and a 17-kb deletion.

Journal of human genetics - 1 Jan 2003

Kayano Shuji, Kure Shigeo, Suzuki Yoichi, Kanno Kiyoshi, Aoki Yoko, Kondo Shinji, Schutte Brian C, Murray Jeffrey C, Yamada Atsushi, Matsubara Yoichi

Abstract excerpt

Three Japanese families with Van der Woude syndrome (VWS) were screened for mutations in the interferon regulatory factor 6 gene (IRF6) by sequencing its entire coding region. Two novel missense mutations, R45Q in exon 3 and P396S in exon 9, were identified in families 1 and 2, respectively. In family 3, no causative base change was found by the sequencing analysis, but a deletion involving exons 4-9 was...

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PMID: 14618417
DOI: 10.1007/s10038-003-0089-0

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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