Banca de QUALIFICAÇÃO: GUSTAVO HENRIQUE DE MEDEIROS OLIVEIRA

Uma banca de QUALIFICAÇÃO de DOUTORADO foi cadastrada pelo programa.
DISCENTE: GUSTAVO HENRIQUE DE MEDEIROS OLIVEIRA
DATA: 15/04/2016
HORA: 14:30
LOCAL: Sala do PPGFar, Faculdade de Farmácia
TÍTULO:

IDENTIFICATION OF SMALL COPY NUMBER VARIANTS IN ISOLATED ORAL CLEFTS: CLINICAL SIGNIFICANCE BASED ON THE INVOLVED GENES

PALAVRAS-CHAVES:

array-CGH; CNV; Oral cleft; Nonsyndromic cleft;

PÁGINAS: 11
GRANDE ÁREA: Ciências da Saúde
ÁREA: Farmácia
RESUMO:

Although more than 14 loci may be involved with the development of Nonsyndromic Cleft lip and/or palate, the precise etiology has not been fully elucidated and there is a confounding with syndromic forms. The traditional genetic mapping strategies have recently been complemented by the powerful tool of array-CGH, able to scan the whole genome at once and detect copy-number variants (CNVs). Although previous studies report that common benign CNVs are often smaller in size, with the majority of benign CNVs smaller than 20 kb here we reveal exonic small CNVs based on the importance of the encompassed genes to CLP. Array-CGH analysis of 15 DNA samples from oral cleft individuals identified 11 exonic CNVs affecting at least one exon of the candidate genes. Thirteen candidate genes (COL11A1, IRF6, MSX1, TERT, MIR4457, CLPTM1L, ESR1, GLI3, FGFR1, TBX1, OFD1, PHF8, and FLNA) were overlapped with the CNVs identified. Taking into account criteria such as size, number of markers and frequency in our-house control group and in DGV database, the microdeletions that encompass the MSX1 gene; the microduplications over the three genes TERT, MIR4457, CLPTM1L; and the microduplication on PHF8 gene stood out. The individual significance of genome-wide small CNVs has not been well elucidated in a clinical context, in oral clefts studies, little is known about the importance of small CNVs detected by array-CGH for genetic diagnosis and gene discovery. Our findings represent an initial search of the clinical significance of small CNVs and its relationship with genes implicate in the development of Nonsyndromic Cleft lip and/or palate.

MEMBROS DA BANCA:
Presidente - 2323511 - ADRIANA AUGUSTO DE REZENDE
Externo ao Programa - 3242546 - REGINALDO ANTONIO DE OLIVEIRA FREITAS JUNIOR
Interno - 1199127 - SILVIA REGINA BATISTUZZO DE MEDEIROS