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Article

Homozygosity mapping and whole-genome sequencing reveals a deep intronic PROM1 mutation causing cone-rod dystrophy by pseudoexon activation.

European journal of human genetics : EJHG - 1 Mar 2016

Mayer Anja K, Rohrschneider Klaus, Strom Tim M, Glöckle Nicola, Kohl Susanne, Wissinger Bernd, Weisschuh Nicole

Abstract excerpt

Several genes have been implicated in the autosomal recessive form of cone-rod dystrophy (CRD), but the majority of cases remain unsolved. We identified a homozygous interval comprising two known genes associated with the autosomal recessive form of CRD, namely RAB28 and PROM1, in a consanguineous family with clinical evidence of CRD. Both genes proved to be mutation negative upon sequencing of exons and...

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Identifiers

PMID: 26153215
DOI: 10.1038/ejhg.2015.144
PMCID: PMC4755378

Genes

PROM1
RAB28

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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