Targeted massively parallel sequencing for congenital generalized lipodystrophy

AUTOR(ES)

Costa-Riquetto, Aline D.; Santana, Lucas S.; Caetano, Lílian A.; Lerário, Antônio M.; Correia-Deur, Joya E. M.; Bertola, Débora R.; Kim, Chong A.; Nery, Márcia; Jorge, Alexander A. L.; Teles, Milena G.

FONTE

Arch. Endocrinol. Metab.

DATA DE PUBLICAÇÃO

2020-10

RESUMO

ABSTRACT 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.

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