biostudies-literatureUnknown64(5)Costa-Riquetto AD<h4>Objective</h4>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).<h4>Methods</h4>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.<h4>Results</h4>An accurate genetic diagnosis was stated for all nine patients. Four had pathogenic variants in <i>AGPAT2</i> and three in <i>BSCL2</i>. Three large homozygous deletions in <i>AGPAT2</i> were identified by copy-number variant analysis.<h4>Conclusion</h4>Although we have found allelic variants in onArchives of endocrinology and metabolism559-566https://www.ebi.ac.uk/biostudies/studies/S-EPMC10118969biostudies-literatureTargeted massively parallel sequencing for congenital generalized lipodystrophy.PMC10118969Correia-Deur JEMCosta-Riquetto ADSantana LSNery MJorge AALTeles MGCaetano LAKim CALerario AMBertola DRfalseTargeted massively parallel sequencing for congenital generalized lipodystrophy.<h4>Objective</h4>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).<h4>Methods</h4>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.<h4>Results</h4>An accurate genetic diagnosis was stated for all nine patients. Four had pathogenic variants in <i>AGPAT2</i> and three in <i>BSCL2</i>. Three large homozygous deletions in <i>AGPAT2</i> were identified by copy-number variant analysis.<h4>Conclusion</h4>Although we have found allelic variants in on2021-01-01T00:00:00Z2021 May2025-04-04T10:22:10.45Z2025-02-19T02:38:39.966ZS-EPMC101189693403329610.20945/2359-3997000000278