A dominant mutation in MAPKAPK3, an actor of p38 signaling pathway, causes a new retinal dystrophy involving Bruch's membrane and retinal pigment epithelium.

doi:10.1093/hmg/ddv624

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Article

A dominant mutation in MAPKAPK3, an actor of p38 signaling pathway, causes a new retinal dystrophy involving Bruch's membrane and retinal pigment epithelium.

Human molecular genetics - 1 Mar 2016

Meunier Isabelle, Lenaers Guy, Bocquet Béatrice, Baudoin Corinne, Piro-Megy Camille, Cubizolle Aurélie, Quilès Mélanie, Jean-Charles Albert, Cohen Salomon Yves, Merle Harold, Gaudric Alain, Labesse Gilles, Manes Gaël, Péquignot Marie, Cazevieille Chantal, Dhaenens Claire-Marie, Fichard Agnès, Ronkina Natalia, Arthur Simon J, Gaestel Matthias, Hamel Christian P

Abstract excerpt

Inherited retinal dystrophies are clinically and genetically heterogeneous with significant number of cases remaining genetically unresolved. We studied a large family from the West Indies islands with a peculiar retinal disease, the Martinique crinkled retinal pigment epitheliopathy that begins around the age of 30 with retinal pigment epithelium (RPE) and Bruch's membrane changes resembling a dry desert land...

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Identifiers

PMID: 26744326
DOI: 10.1093/hmg/ddv624

Genes

MAPKAPK3
RPE

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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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