Novel rare variations in IRF6 in subjects with non-syndromic cleft lip and palate and dental agenesis

Autor(es)

Neves, Lucimara T. ^{[1, 2]} ; Dionisio, Thiago J. ^[1] ; Garbieri, Thais F. ^[1] ; Parisi, Viviane A. ^[1] ; Oliveira, Fernanda V. ^[3] ; Oliveira, Thais M. ^{[2, 3]} ; Santos, Carlos F. ^{[1, 2]}

Afiliação do(s) autor(es)

^[1] Univ Sao Paulo, Bauru Sch Dent, Dept Biol Sci, Bauru - Brazil

^[2] Univ Sao Paulo, Hosp Rehabil Craniofacial Anomalies, Postgrad Program Rehabil Sci, Bauru - Brazil

^[3] Univ Sao Paulo, Bauru Sch Dent, Dept Pediat Dent Orthodont & Community Hlth, Bauru - Brazil

• Tipo de documento: Artigo Científico
• Fonte: ORAL DISEASES; v. 25, n. 1, p. 223-233, JAN 2019.
• Citações Web of Science: 1

Resumo

Objective Subjects with cleft lip and palate (CLP) present high prevalence of dental agenesis. Among candidate genes for these phenotypes is IRF6. However, genetic studies do not analyze dental agenesis as a phenotype associated with cleft. Therefore, we investigated the frequency of rare and novel variations in IRF6 in subjects with non-syndromic unilateral cleft lip and palate (NSUCLP), with and without dental agenesis. Subjects and Methods Genomic DNA samples of 100 subjects with NSUCLP with and without dental agenesis and 50 controls were sequenced. IRF6 mutational screening was conducted by direct sequencing. Results Ten new and rare missense variations were identified, two in the group cleft with agenesis and eight in the group cleft without agenesis, and none were found in control group. In silico analysis revealed four variations as potentially deleterious, being two in the group with cleft and agenesis and two in the group with cleft without agenesis. Conclusion The study identified novel IFR6 variations in subjects with NSUCLP with or without associated dental agenesis. The hypothesis of a higher frequency of deleterious variations in the subjects with cleft associated with dental agenesis, when compared to the group of cleft without agenesis and control without cleft, was not supported. (AU)

• Processo FAPESP: 08/08927-8 - Triagem de mutação nos genes IRF6, MSX1 e PAX9 em indivíduos com fissura de lábio e palato e agenesia dentária
• Beneficiário: Carlos Ferreira dos Santos
• Modalidade de apoio: Auxílio à Pesquisa - Regular