Targeted massively parallel sequencing for congenital generalized lipodystrophy.
Arch Endocrinol Metab
; 64(5): 559-566, 2021 May 18.
Article
en En
| MEDLINE
| ID: mdl-34033296
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).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.CONCLUSION:
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.Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Subunidades gamma de la Proteína de Unión al GTP
/
Lipodistrofia Generalizada Congénita
/
Lipodistrofia
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Límite:
Humans
Idioma:
En
Revista:
Arch Endocrinol Metab
Año:
2021
Tipo del documento:
Article
País de afiliación:
Brasil