Targeted massively parallel sequencing for congenital generalized lipodystrophy
Arch. endocrinol. metab. (Online)
; 64(5): 559-566, Sept.-Oct. 2020. tab, graf
Article
de En
| LILACS
| ID: biblio-1131124
Bibliothèque responsable:
BR1.1
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.Mots clés
Texte intégral:
1
Indice:
LILACS
Sujet Principal:
Sous-unités gamma des protéines G
/
Lipodystrophie généralisée congénitale
/
Lipodystrophie
Type d'étude:
Prognostic_studies
Limites du sujet:
Humans
langue:
En
Texte intégral:
Arch. endocrinol. metab. (Online)
Thème du journal:
ENDOCRINOLOGIA
/
METABOLISMO
Année:
2020
Type:
Article