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Dominant Mutations ...
Dominant Mutations in GRHL3 Cause Van der Woude Syndrome and Disrupt Oral Periderm Development
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- Peyrard-Janvid, Myriam (author)
- Karolinska Institutet
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Leslie, Elizabeth J. (author)
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Kousa, Youssef A. (author)
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Smith, Tiffany L. (author)
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Dunnwald, Martine (author)
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- Magnusson, Måns (author)
- Karolinska Institutet
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Lentz, Brian A. (author)
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- Unneberg, Per (author)
- Stockholms universitet,Institutionen för biokemi och biofysik,Science for Life Laboratory (SciLifeLab)
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Fransson, Ingegerd (author)
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Koillinen, Hannele K. (author)
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Rautio, Jorma (author)
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Pegelow, Marie (author)
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- Karsten, Agneta (author)
- Karolinska Institutet
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Basel-Vanagaite, Lina (author)
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Gordon, William (author)
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Andersen, Bogi (author)
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- Svensson, Thomas (author)
- Karolinska Institutet
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Murray, Jeffrey C. (author)
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Cornell, Robert A. (author)
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- Kere, Juha (author)
- Karolinska Institutet
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Schutte, Brian C. (author)
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(creator_code:org_t)
- Elsevier BV, 2014
- 2014
- English.
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In: American Journal of Human Genetics. - : Elsevier BV. - 0002-9297 .- 1537-6605. ; 94:1, s. 23-32
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Abstract
Subject headings
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- Mutations in interferon regulatory factor 6 (IRF6) account for similar to 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 a dominant-negative effect, in contrast to haploinsufficiency seen in most VWS cases caused by IRF6 mutations. In mouse, all embryos lacking Grhl3 exhibited abnormal oral periderm and 17% developed a cleft palate. Analysis of the oral phenotype of double heterozygote (Irf6(+/-);Grhl3(+/-)) murine embryos failed to detect epistasis between the two genes, suggesting that they function in separate but convergent pathways during palatogenesis. Taken together, our data demonstrated that mutations in two genes, IRF6 and GRHL3, can lead to nearly identical phenotypes of orofacial cleft. They supported the hypotheses that both genes are essential for the presence of a functional oral periderm and that failure of this process contributes to VWS.
Subject headings
- NATURVETENSKAP -- Biologi -- Genetik (hsv//swe)
- NATURAL SCIENCES -- Biological Sciences -- Genetics (hsv//eng)
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Peyrard-Janvid, ...
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Leslie, Elizabet ...
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Kousa, Youssef A ...
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Smith, Tiffany L ...
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Dunnwald, Martin ...
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Magnusson, Måns
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show more...
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Lentz, Brian A.
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Unneberg, Per
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Fransson, Ingege ...
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Koillinen, Hanne ...
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Rautio, Jorma
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Pegelow, Marie
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Karsten, Agneta
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Basel-Vanagaite, ...
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Gordon, William
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Andersen, Bogi
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Svensson, Thomas
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Murray, Jeffrey ...
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Cornell, Robert ...
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Kere, Juha
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Schutte, Brian C ...
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- About the subject
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- NATURAL SCIENCES
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NATURAL SCIENCES
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and Biological Scien ...
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and Genetics
- Articles in the publication
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American Journal ...
- By the university
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Stockholm University
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Karolinska Institutet