Targeted massively parallel sequencing for congenital generalized lipodystrophy
Arch. endocrinol. metab. (Online)
;
64(5): 559-566, Sept.-Oct. 2020. tab, graf
Artículo
en Inglés
| LILACS
| ID: biblio-1131124
ABSTRACT
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 andmethods:
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.
Texto completo:
Disponible
Índice:
LILACS (Américas)
Asunto principal:
Subunidades gamma de la Proteína de Unión al GTP
/
Lipodistrofia Generalizada Congénita
/
Lipodistrofia
Tipo de estudio:
Estudio pronóstico
Límite:
Humanos
Idioma:
Inglés
Revista:
Arch. endocrinol. metab. (Online)
Asunto de la revista:
Endocrinologia
/
Metabolismo
Año:
2020
Tipo del documento:
Artículo
País de afiliación:
Brasil
Institución/País de afiliación:
Universidade de São Paulo/BR
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