ASSOCIATION STUDY OF RARE VARIANTS IN CANDIDATE GENES FOR OROFACIAL CLEFTS IN THE BRAZILIAN POPULATION

• Grant number: 16/17392-7
• Support Opportunities: Scholarships in Brazil - Doctorate
• Start date: April 01, 2017
• End date: April 30, 2019
• Field of knowledge: Biological Sciences - Genetics - Human and Medical Genetics
• Principal Investigator: Maria Rita dos Santos e Passos Bueno
• Grantee: Ágatha Cristhina Oliveira Faria
• Host Institution: Instituto de Biociências (IB). Universidade de São Paulo (USP). São Paulo , SP, Brazil
• Associated research grant: 13/08028-1 - CEGH-CEL - Human Genome and Stem Cell Research Center, AP.CEPID

Abstract

Orofacial clefts (OC), involving cleft lip with or without the palate (CL/P) and palate cleft only (PC) are the most common type of craniofacial malformations. Nonsyndromic OC (NS-OC) account for 70% of all cases reported, and its complex etiology remains poorly understood. The inheritance pattern is multifactorial with strong influence of genetic and environmental factors. Although linkage analysis and association studies have suggested several loci of susceptibility to NS-OC, the entire genetic component remains unclear. Advances in next generation sequencing technologies improved the detection rate of rare variants. Indeed, several studies suggested that rare variants might explain part of the missing heritability of many multifactorial diseases, including OC. Thus, the objective of this project is to identify the contribution of rare variants in the etiology of NS-OC. To this, 68 candidate genes will be sequenced in at least 200 patients with familial NS-OC using next generation sequencing. The rare variants will be validated by Sanger sequencing and compared with variants in public databases and in a sample of 609 Brazilian unaffected individuals.

Scientific publications

(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)

SAMOGY-COSTA, CLAUDIA ISMANIA; VARELLA-BRANCO, ELISA; MONFARDINI, FREDERICO; FERRAZ, HELEN; FOCK, RODRIGO AMBROSIO; ALMEIDA BARBOSA, RICARDO HENRIQUE; SANTOS PESSOA, ANDRE LUIZ; ALVAREZ PEREZ, ANA BEATRIZ; LOURENCO, NAILA; VIBRANOVSKI, MARIA; et al. A Brazilian cohort of individuals with Phelan-McDermid syndrome: genotype-phenotype correlation and identification of an atypical case. JOURNAL OF NEURODEVELOPMENTAL DISORDERS, v. 11, JUL 18 2019. (16/17392-7, 13/08028-1)

Academic Publications

(References retrieved automatically from State of São Paulo Research Institutions)

FARIA, Ágatha Cristhina Oliveira. Susceptibility factors to orofacial clefts. 2019. Doctoral Thesis - Universidade de São Paulo (USP). Instituto de Biociências (IBIOC/SB) São Paulo.