A novel splice site mutation in the SDCCAG8 gene in an Iranian family with Bardet-Biedl syndrome.
Int Ophthalmol
; 41(2): 389-397, 2021 Feb.
Article
em En
| MEDLINE
| ID: mdl-32926352
ABSTRACT
PURPOSE:
Bardet-Biedl syndrome (BBS OMIM 209,900) is a rare ciliopathic human genetic disorder that affects many parts of the body systems. BBS is a genetically heterogeneous disorder with a wide spectrum of clinical manifestations which makes its diagnosis and management more challenging. RetNet reports 18 genes that cause BBS and each of genes has had several known mutations. Genetic studies suggesting that serologically defined colon cancer antigen 8 (SDCCAG8) gene mutations are a major cause of BBS. MATERIALS ANDMETHODS:
In this section, we investigated the consanguineous Iranian family members with BBS. Whole-exome sequencing and Sanger sequencing, were performed to screen and confirm the suspicious pathogenic mutations. The identified mutation was investigated using bioinformatics tools to predict the effect of the mutation on protein structure.RESULTS:
Sequential analysis identified a novel splice site mutation c.1221 + 2 T > A in the SDCCAG8 gene in BBS patients. Structure-based approaches have predicted significant structural alterations in SDCCAG8 protein.CONCLUSIONS:
This study was conducted to show the aberrant alternative splicing as one of the single splicing mutations identified can cause BBS by affecting the function of SDCCAG8 protein.Palavras-chave
Texto completo:
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Base de dados:
MEDLINE
Assunto principal:
Autoantígenos
/
Síndrome de Bardet-Biedl
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Proteínas de Neoplasias
Idioma:
En
Ano de publicação:
2021
Tipo de documento:
Article