JOYA EMILIE DE MENEZES CORREIA
Projetos de Pesquisa
Unidades Organizacionais
LIM/25 - Laboratório de Endocrinologia Celular e Molecular, Hospital das Clínicas, Faculdade de Medicina
1 resultados
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- Targeted massively parallel sequencing for congenital generalized lipodystrophy(2020) COSTA-RIQUETTO, Aline D.; SANTANA, Lucas S.; CAETANO, Lilian A.; LERARIO, Antonio M.; CORREIA-DEUR, Joya E. M.; BERTOLA, Debora R.; KIM, Chong A.; NERY, Marcia; JORGE, Alexander A. L.; TELES, Milena G.Objective. Our aim is to establish genetic diagnosis of congenital generalized lipodystrophy (CGL) using targeted massively parallel sequencing (MPS), also known as next-generation sequencing (NGS). Subjects and methods: Nine unrelated individuals with a clinical diagnosis of CGL were recruited. We used a customized panel to capture genes related to genetic lipodystrophies. DNA libraries were generated, sequenced using the Illumina MiSeq, and bioinformatics analysis was performed. Results: An accurate genetic diagnosis was stated for all nine patients. Four had pathogenic variants in AGPAT2 and three in BSCL2. Three large homozygous deletions in AGPAT2 were identified by copy-number variant analysis. Conclusions: Although we have found allelic variants in only 2 genes related to CGL, the panel was able to identify different variants including deletions that would have been missed by Sanger sequencing. We believe that MPS is a valuable tool for the genetic diagnosis of multi-genes related diseases, including CGL.