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Article

Whole Exome Sequencing in Eight Thai Patients With Leber Congenital Amaurosis Reveals Mutations in the CTNNA1 and CYP4V2 Genes.

Investigative ophthalmology & visual science - 1 Apr 2017

Jinda Worapoj, Taylor Todd D, Suzuki Yutaka, Thongnoppakhun Wanna, Limwongse Chanin, Lertrit Patcharee, Trinavarat Adisak, Atchaneeyasakul La-Ongsri

Abstract excerpt

Purpose: Our goal was to describe the clinical and molecular genetic findings in Thai patients with Leber congenital amaurosis (LCA). Methods: Whole exome sequencing (WES) was performed in eight unrelated patients. All genes responsible for inherited retinal diseases (IRDs) based on RetNet were selected for analysis. Potentially causative variants were filtered through a bioinformatics pipeline and validated...

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Source

Identifiers

PMID: 28453600
DOI: 10.1167/iovs.16-21322

Genes

CTNNA1
ALMS1
IQCB1
NMNAT1
RPGRIP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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