Sorry, I don't understand your search. ×
Back to Search Start Over

A novel nonsense variant (c.1499C>G) in CRB1 caused Leber congenital amaurosis-8 in a Chinese family and a literature review

A novel nonsense variant (c.1499C>G) in CRB1 caused Leber congenital amaurosis-8 in a Chinese family and a literature review

Authors :
Wenhua, Duan
Taicheng, Zhou
Huawei, Jiang
Minhui, Zhang
Min, Hu
Liwei, Zhang
Source :
BMC Medical Genomics. 15
Publication Year :
2022
Publisher :
Springer Science and Business Media LLC, 2022.

Abstract

Background Leber’s congenital amaurosis (LCA) is a severe hereditary retinopathy disease that is characterized by early and severe reduction of vision, nystagmus, and sluggish or absent pupillary responses. To date, the pathogenesis of LCA remains unclear, and the majority of cases are caused by autosomal recessive inheritance. In this study, we explored the variant in the Crumbs homologue 1 (CRB1) gene in a Chinese family with LCA. Methods We conducted comprehensive ocular examinations and collected 5 ml of blood samples from members of a Chinese family with LCA. A pathogenic variant was identified by capturing (the panel in NGS) and Sanger sequencing validation. Results A nonsense variant (c.1499C>G) in the 6th exon of CRB1 gene in a Chinese family with LCA was identified, which predicted a change in the protein p. S500*, may lead to loss of gene function. We summarized the 76 variants reported thus far in CRB1 that caused LCA8. Conclusions This study reported a novel variant c.1499C>G (p. S500*) of the CRB1 gene occurred in a Chinese family with LCA, thus expanding the spectrum of CRB1 variants causing LCA.

Details

ISSN :
17558794
Volume :
15
Database :
OpenAIRE
Journal :
BMC Medical Genomics
Accession number :
edsair.doi.dedup.....3b7c42c6a26a7dd2ac9f25688482ad67
Full Text :
https://doi.org/10.1186/s12920-022-01356-z