{Reference Type}: Journal Article
{Title}: Targeted massively parallel sequencing for congenital generalized lipodystrophy.
{Author}: Costa-Riquetto AD;Santana LS;Caetano LA;Lerário AM;Correia-Deur JEM;Bertola DR;Kim CA;Nery M;Jorge AAL;Teles MG;
{Journal}: Arch Endocrinol Metab
{Volume}: 64
{Issue}: 5
{Year}: May 2021 18
{Factor}: 2.032
{DOI}: 10.20945/2359-3997000000278
{Abstract}: <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.