Targeted massively parallel sequencing for congenital generalized lipodystrophy
ABSTRACT 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.
| Auteurs principaux: | , , , , , , , , , |
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| Format: | Digital revista |
| Langue: | English |
| Publié: |
Sociedade Brasileira de Endocrinologia e Metabologia
2020
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| Accès en ligne: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972020000500559 |
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