Author(s): 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.
Date: 2020
Origin: Oasisbr
Subject(s): 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.
