Targeted massively parallel sequencing for congenital generalized lipodystrophy

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art_COSTA-RIQUETTO_Targeted_massively_parallel_sequencing_for_congenital_generalized_lipodystrophy_2020.PDF.pdf (1.06 MB)
Citações na Scopus
0
Tipo de produção
article
Data de publicação
2020
DOI
SciELO
Scopus
Web of Science
PubMed
Título da Revista
ISSN da Revista
Título do Volume
Editora
SBEM-SOC BRASIL ENDOCRINOLOGIA & METABOLOGIA
Autores
CAETANO, Lilian A.
Citação
ARCHIVES OF ENDOCRINOLOGY METABOLISM, v.64, n.5, p.559-566, 2020
Projetos de Pesquisa
Unidades Organizacionais
Fascículo
Resumo
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.
Palavras-chave
Congenital generalized lipodystrophy, Berardinelli-Seip syndrome, massively parallel sequencing, deep sequencing
URI
https://observatorio.fm.usp.br/handle/OPI/38419
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Coleções
Artigos e Materiais de Revistas Científicas - FM/MPE
Artigos e Materiais de Revistas Científicas - FM/MCM
Artigos e Materiais de Revistas Científicas - HC/ICHC
Artigos e Materiais de Revistas Científicas - HC/ICr
Artigos e Materiais de Revistas Científicas - LIM/25
Artigos e Materiais de Revistas Científicas - LIM/36