Targeted massively parallel sequencing for congenital generalized lipodystrophy

• Autor(a) principal: Costa-Riquetto,Aline D.
• Data de Publicação: 2020
• Outros Autores: 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.
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Arquivos de Endocrinologia e Metabolismo (Online)
• Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972020000500559
• topic: Congenital generalized lipodystrophy; Berardinelli-Seip syndrome; massively parallel sequencing; deep sequencing

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.