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Article

Identification of novel X-linked gain-of-function RPGR-ORF15 mutation in Italian family with retinitis pigmentosa and pathologic myopia.

Scientific reports - 20 Dec 2016

Parmeggiani Francesco, Barbaro Vanessa, De Nadai Katia, Lavezzo Enrico, Toppo Stefano, Chizzolini Marzio, Palù Giorgio, Parolin Cristina, Di Iorio Enzo

Abstract excerpt

The aim of this study was to describe a new pathogenic variant in the mutational hot spot exon ORF15 of retinitis pigmentosa GTPase regulator (RPGR) gene within an Italian family with X-linked retinitis pigmentosa (RP), detailing its distinctive genotype-phenotype correlation with pathologic myopia (PM). All members of this RP-PM family underwent a complete ophthalmic examination. The entire open reading frames...

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Identifiers

PMID: 27995965
DOI: 10.1038/srep39179
PMCID: PMC5171904

Genes

RPGR

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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