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Article

A recurrent splice-site mutation in EPHA2 causing congenital posterior nuclear cataract.

Ophthalmic genetics - 1 Apr 2018

Berry Vanita, Pontikos Nikolas, Albarca-Aguilera Monica, Plagnol Vincent, Massouras Andreas, Prescott DeQuincy, Moore Anthony T, Arno Gavin, Cheetham Michael E, Michaelides Michel

Abstract excerpt

Intoduction: Inherited cataract, opacification of the lens, is the most common worldwide cause of blindness in children. We aimed to identify the genetic cause of autosomal dominant (AD) posterior nuclear cataract in a four generation British family. METHODS: Whole genome sequence (WGS) was performed on two affected and one unaffected individual of the family and further validated by direct sequencing. Haplotype...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29039721
DOI: 10.1080/13816810.2017.1381977

Genes

EPHA2

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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