Banca de QUALIFICAÇÃO: WASHINGTON CANDEIA DE ARAUJO

Uma banca de QUALIFICAÇÃO de DOUTORADO foi cadastrada pelo programa.
STUDENT : WASHINGTON CANDEIA DE ARAUJO
DATE: 23/06/2020
TIME: 09:00
LOCAL: Videoconferência
TITLE:

SÍNDROME DE ALPORT NO RIO GRANDE DO NORTE: ANÁLISE DE EXOMA EM DUAS FAMÍLIAS

KEY WORDS:

 whole exome sequencing, runs of homozygosity, kidney diseases, collagen type IV

PAGES: 37
BIG AREA: Ciências Biológicas
AREA: Bioquímica
SUMMARY:

Alport syndrome (AS) is progressive and hereditary nephropathy, characterized by hematuria and proteinuria, in addition to extrarenal manifestations as hearing loss and eye abnormalities. There are three types of inheritance, which are autosomal recessive or dominant, caused by variants in COL4A3 and COL4A4 loci, respectively, and X-linked, mutations in COL4A5 locus. Those genes encoding type IV collagen are part of the glomerular basement membrane (GBM). Two unrelated families with AS cases from Brazil were studied and a whole exome sequencing (WES) using Illumina HiSeq 4000 of eight individuals were performed. A mapping against the human genome (GRCh38/hg38 build) was performed aiming to identify causative mutations. Variant analysis showed deleterious variant in COL4A3 of chromosome 2. A variant was detected with alternative allele at homozygous state in proband sample, one novel premature stop codon at position 481 of COL4A3 protein. This AS case presented it variants surrounded by a broad Runs of Homozygosity (ROH) stretch covering those complete loci. Those regions had a Low SNP Heterozygosity, covering the complete collagen type IV loci of chromosome 2. The reported variants are indicative of complexity of AS inheritance. The stop codon gained variant described is possibly a case of autosomal recessive Alport Syndrome (ARAS) and direct influenced by consanguineous marriage. The ROH region viewed in this family is a signal of historic genetic factors.

BANKING MEMBERS:
Presidente - 1880243 - DANIEL CARLOS FERREIRA LANZA
Interno - 1046922 - LEONARDO CAPISTRANO FERREIRA
Externo ao Programa - 2170415 - JORGE ESTEFANO SANTANA DE SOUZA