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Homozygosity Mapping and Whole-Genome Sequencing Links a Missense Mutation in POMGNT1 to Autosomal Recessive Retinitis Pigmentosa.

Investigative ophthalmology & visual science - 1 Jul 2016

Wang Nana Hsiang-Hua, Chen Shih-Jen, Yang Chi-Fan, Chen Hui-Wen, Chuang Hui-Ping, Lu Yung-Hsiu, Chen Chien-Hsiun, Wu Jer-Yuarn, Niu Dau-Ming, Chen Yuan-Tsong

Abstract excerpt

PURPOSE: To identify the genetic cause in five families with autosomal recessive retinitis pigmentosa, a genetic disorder involving retinal degeneration and visual loss with high genetic heterogeneity. METHODS: We performed whole-genome single nucleotide polymorphism genotyping on 35 members from the five families to map the region of homozygosity shared by all patients. Whole-genome sequencing was then conducted...

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Source

Identifiers

PMID: 27391550
DOI: 10.1167/iovs.16-19463

Genes

POMGNT1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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