{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["64(5)"],"submitter":["Costa-Riquetto AD"],"pubmed_abstract":["<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 on"],"journal":["Archives of endocrinology and metabolism"],"pagination":["559-566"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10118969"],"repository":["biostudies-literature"],"pubmed_title":["Targeted massively parallel sequencing for congenital generalized lipodystrophy."],"pmcid":["PMC10118969"],"pubmed_authors":["Correia-Deur JEM","Costa-Riquetto AD","Santana LS","Nery M","Jorge AAL","Teles MG","Caetano LA","Kim CA","Lerario AM","Bertola DR"],"additional_accession":[]},"is_claimable":false,"name":"Targeted massively parallel sequencing for congenital generalized lipodystrophy.","description":"<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 on","dates":{"release":"2021-01-01T00:00:00Z","publication":"2021 May","modification":"2025-04-04T10:22:10.45Z","creation":"2025-02-19T02:38:39.966Z"},"accession":"S-EPMC10118969","cross_references":{"pubmed":["34033296"],"doi":["10.20945/2359-3997000000278"]}}