Dominant mutations in GRHL3 cause Van der Woude Syndrome and disrupt oral periderm development.

doi:10.1016/j.ajhg.2013.11.009

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Article

Dominant mutations in GRHL3 cause Van der Woude Syndrome and disrupt oral periderm development.

American journal of human genetics - 2 Jan 2014

Peyrard-Janvid Myriam, Leslie Elizabeth J, Kousa Youssef A, Smith Tiffany L, Dunnwald Martine, Magnusson Måns, Lentz Brian A, Unneberg Per, Fransson Ingegerd, Koillinen Hannele K, Rautio Jorma, Pegelow Marie, Karsten Agneta, Basel-Vanagaite Lina, Gordon William, Andersen Bogi, Svensson Thomas, Murray Jeffrey C, Cornell Robert A, Kere Juha, Schutte Brian C

Abstract excerpt

Mutations in interferon regulatory factor 6 (IRF6) account for ∼70% of cases of Van der Woude syndrome (VWS), the most common syndromic form of cleft lip and palate. In 8 of 45 VWS-affected families lacking a mutation in IRF6, we found coding mutations in grainyhead-like 3 (GRHL3). According to a zebrafish-based assay, the disease-associated GRHL3 mutations abrogated periderm development and were consistent with...

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Identifiers

PMID: 24360809
DOI: 10.1016/j.ajhg.2013.11.009
PMCID: PMC3882735

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GRHL3

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