A novel IRF6 mutation causing non-syndromic cleft lip with or without cleft palate in a pedigree
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منابع مشابه
Evaluating SKI as a candidate gene for non-syndromic cleft lip with or without cleft palate.
Non-syndromic cleft lip with or without cleft palate (NSCL/P) is one of the most common of all congenital malformations and has a multifactorial etiology. Findings in mice suggest that the v-ski sarcoma viral oncogene homolog (SKI) gene is a candidate gene for orofacial clefting. In humans, a significant association between rs2843159 within SKI and NSCL/P has been reported in patients from the ...
متن کاملNovel mutations in IRF6 in nonsyndromic cleft lip with or without cleft palate: when should IRF6 mutational screening be done?
Novel Mutations in IRF6 in Nonsyndromic Cleft Lip With or Without Cleft Palate: When Should IRF6 Mutational Screening be Done? Fernanda Sarquis Jehee, Beatriz A. Burin, K atia M. Rocha, Roseli Zechi-Ceide, Daniela F. Bueno, Luciano Brito, Josiane Souza, Gabriela Ferraz Leal, Antonio Richieri-Costa, Nivaldo Alonso, Paulo A. Otto, and Maria Rita Passos-Bueno* Centro de Estudos do Genoma Humano, D...
متن کاملVariation in WNT genes is associated with non-syndromic cleft lip with or without cleft palate.
Non-syndromic cleft lip with or without cleft palate (NSCLP) is a common birth defect. Genetic and environmental factors have been causally implicated and studies have begun to delineate genetic contributions. The Wnt genes are involved in regulating mid-face development and upper lip fusion and are therefore strong candidates for an etiological role in NSCLP. Furthermore, the clf1 region in A/...
متن کاملAssociation of polymorphisms of IRF6 to non-syndromic cleft lip with or without palate in a Guangdong population
Non-syndromic cleft lip with or without cleft palate (NSCL/P) is the most common birth defect. The gene interferon regulatory factor 6 (IRF6) is the most studied candidate-cause of clefts of the lip, palate, or both. Variations of IRF6 are associated with ethnicity. We investigated the presence of 8 tag SNPs of IRF6 in residents of Guangdong province: 126 patients with NSCL/P (29 with cleft lip...
متن کاملIRF6 polymorphisms in Mexican patients with non-syndromic cleft lip
Cleft lip with or without cleft palate (CL/P) is one of the most common birth defects; it is a multifactorial disease affecting > 1/1,000 live births in Europe, and its etiology is largely unknown, although it is very likely genetic and environmental factors contribute to this malformation. Orofacial development is a complex process involving many genes and signaling pathways. Mutations in the ...
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ژورنال
عنوان ژورنال: Mutagenesis
سال: 2018
ISSN: 0267-8357,1464-3804
DOI: 10.1093/mutage/gey012