Toward an orofacial gene regulatory network

Developmental Dynamics : an Official Publication of the American Association of Anatomists
Youssef A Kousa, Brian C Schutte

Abstract

Orofacial clefting is a common birth defect with significant morbidity. A panoply of candidate genes have been discovered through synergy of animal models and human genetics. Among these, variants in interferon regulatory factor 6 (IRF6) cause syndromic orofacial clefting and contribute risk toward isolated cleft lip and palate (1/700 live births). Rare variants in IRF6 can lead to Van der Woude syndrome (1/35,000 live births) and popliteal pterygium syndrome (1/300,000 live births). Furthermore, IRF6 regulates GRHL3 and rare variants in this downstream target can also lead to Van der Woude syndrome. In addition, a common variant (rs642961) in the IRF6 locus is found in 30% of the world's population and contributes risk for isolated orofacial clefting. Biochemical studies revealed that rs642961 abrogates one of four AP-2alpha binding sites. Like IRF6 and GRHL3, rare variants in TFAP2A can also lead to syndromic orofacial clefting with lip pits (branchio-oculo-facial syndrome). The literature suggests that AP-2alpha, IRF6 and GRHL3 are part of a pathway that is essential for lip and palate development. In addition to updating the pathways, players and pursuits, this review will highlight some of the current questions in the stud...Continue Reading

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Citations

Oct 5, 2016·Human Genetics·M PhanC E L Carels
Dec 10, 2016·Birth Defects Research·Youssef A KousaBrian C Schutte
Nov 12, 2016·Journal of Dental Research·K D KhandelwalC E L Carels
Apr 2, 2017·Developmental Biology·Joan E HooperTrevor Williams
May 8, 2016·Journal of Dental Research·J A Velázquez-AragónA González-Del Angel
Jun 24, 2017·Developmental Dynamics : an Official Publication of the American Association of Anatomists·Youssef A KousaBrian C Schutte
Jul 22, 2017·Journal of Dental Research·Y A KousaB C Schutte
Jul 27, 2017·Journal of Dental Research·C LiR Jiang
Sep 30, 2019·Oral Diseases·Camilla de Marchi Sanches AzevedoAna Lúcia Carrinho Ayroza Rangel
Dec 12, 2019·Birth Defects Research·Lorena MailiJacqueline T Hecht
Sep 4, 2019·Journal of Oral Pathology & Medicine : Official Publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology·Sissy Maria Dos Anjos MendesÂndrea Ribeiro-Dos-Santos
Jan 29, 2019·Human Molecular Genetics·Youssef A KousaBrian C Schutte
Sep 27, 2018·European Journal of Human Genetics : EJHG·Zahra Razaghi-MoghadamNaser Ansari-Pour
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Jun 29, 2021·Frontiers in Cell and Developmental Biology·Ludovica ParisiMartin Degen

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