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Article

Whole-exome sequencing identifies a novel homozygous frameshift mutation in the PROM1 gene as a causative mutation in two patients with sporadic retinitis pigmentosa.

International journal of molecular medicine - 1 Jun 2016

Liu Sanmei, Xie Lan, Yue Jun, Ma Tao, Peng Chunyan, Qiu Biyuan, Yang Zhenglin, Yang Jiyun

Abstract excerpt

Retinitis pigmentosa (RP) refers to a heterogeneous group of inherited retinal diseases caused by the loss of photoreceptors. The present study aimed to identify the gene mutations responsible for RP in two patients diagnosed with sporadic RP using next-generation sequencing technology. For this purpose, two patients with sporadic RP and family members (namely parents and siblings) were recruited into this study...

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Source

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Identifiers

PMID: 27082927
DOI: 10.3892/ijmm.2016.2551
PMCID: PMC4866957

Genes

PROM1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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