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Article

A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula.

Scientific reports - 3 May 2017

Khan Arif O, Becirovic Elvir, Betz Christian, Neuhaus Christine, Altmüller Janine, Maria Riedmayr Lisa, Motameny Susanne, Nürnberg Gudrun, Nürnberg Peter, Bolz Hanno J

Abstract excerpt

Deafblindness is mostly due to Usher syndrome caused by recessive mutations in the known genes. Mutation-negative patients therefore either have distinct diseases, mutations in yet unknown Usher genes or in extra-exonic parts of the known genes - to date a largely unexplored possibility. In a consanguineous Saudi family segregating Usher syndrome type 1 (USH1), NGS of genes for Usher syndrome, deafness and...

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Identifiers

PMID: 28469144
DOI: 10.1038/s41598-017-01577-8
PMCID: PMC5431179

Genes

CLRN1

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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