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. Arch Endocrinol Metab. 2020;64(5):559-66.
CITATION STYLE
Costa-Riquetto, A. D., Santana, L. S., Caetano, L. A., Lerário, A. M., Correia-Deur, J. E. M., Bertola, D. R., … Teles, M. G. (2020). Targeted massively parallel sequencing for congenital generalized lipodystrophy. Archives of Endocrinology and Metabolism, 64(5), 559–566. https://doi.org/10.20945/2359-3997000000278
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