Whole-exome sequencing and molecular dynamics confirm pathogenicity of a novel SLC6A6 mutation in Leber congenital amaurosis

Whole-exome sequencing and molecular dynamics confirm pathogenicity of a novel SLC6A6 mutation in Leber congenital amaurosis

Abstract Introduction Inherited retinal diseases (IRDs) are a clinically and genetically heterogenous group where the robust advancement of next-generation sequencing technologies has facilitated genotype-assisted diagnosis. Leber congenital amaurosis (LCA) is a severe form of inherited retinal dyst...

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Bibliographic Details
Main Authors: Srikrupa N. Natarajan, Samdani Ansar, Sarangapani Sripriya, Sen Parveen, Ravi Gupta, Umashankar Vetrivel, Mathavan Sinnakarupan
Format: Article
Language:English
Published: SpringerOpen 2025-02-01
Series:Egyptian Journal of Medical Human Genetics
Subjects:
Next-generation sequencing
SLC6A6
Leber congenital amaurosis
Whole-exome sequencing
Homology modeling
Online Access:https://doi.org/10.1186/s43042-025-00659-x
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