Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt.

doi:10.1136/jmedgenet-2015-103511

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Article

Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt.

Journal of medical genetics - 1 Jun 2016

Di Donato Nataliya, Neuhann Teresa, Kahlert Anne-Karin, Klink Barbara, Hackmann Karl, Neuhann Irmingard, Novotna Barbora, Schallner Jens, Krause Claudia, Glass Ian A, Parnell Shawn E, Benet-Pages Anna, Nissen Anke M, Berger Wolfgang, Altmüller Janine, Thiele Holger, Weber Bernhard H F, Schrock Evelin, Dobyns William B, Bier Andrea, Rump Andreas

Abstract excerpt

BACKGROUND: Retinitis pigmentosa in combination with hearing loss can be a feature of different Mendelian disorders. We describe a novel syndrome caused by biallelic mutations in the 'exosome component 2' (EXOSC2) gene. METHODS: Clinical ascertainment of three similar affected patients followed by whole exome sequencing. RESULTS: Three individuals from two unrelated German families presented with a novel...

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Identifiers

PMID: 26843489
DOI: 10.1136/jmedgenet-2015-103511

Genes

EXOSC2
EXOSC3
EXOSC8

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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