%0 Journal Article
%T Targeted massively parallel sequencing for congenital generalized lipodystrophy.
%A Costa-Riquetto AD
%A Santana LS
%A Caetano LA
%A Lerário AM
%A Correia-Deur JEM
%A Bertola DR
%A Kim CA
%A Nery M
%A Jorge AAL
%A Teles MG
%J Arch Endocrinol Metab
%V 64
%N 5
%D May 2021 18
%M 34033296
%F 2.032
%R 10.20945/2359-3997000000278
%X <B>OBJECTIVE: </B>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).<BR><B>METHODS: </B>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.<BR><B>RESULTS: </B>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.<BR><B>CONCLUSIONS: </B>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.