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Article

Genetic and genomic studies of pathogenic EXOSC2 mutations in the newly described disease SHRF implicate the autophagy pathway in disease pathogenesis.

Human molecular genetics - 13 Mar 2020

Yang Xue, Bayat Vafa, DiDonato Nataliya, Zhao Yang, Zarnegar Brian, Siprashvili Zurab, Lopez-Pajares Vanessa, Sun Tao, Tao Shiying, Li Chenjian, Rump Andreas, Khavari Paul, Lu Bingwei

Abstract excerpt

Missense mutations in the RNA exosome component exosome component 2 (EXOSC2), also known as ribosomal RNA-processing protein 4 (RRP4), were recently identified in two unrelated families with a novel syndrome known as Short stature, Hearing loss, Retinitis pigmentosa and distinctive Facies (SHRF, #OMIM 617763). Little is known about the mechanism of the SHRF pathogenesis. Here we have studied the effect of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 31628467
DOI: 10.1093/hmg/ddz251
PMCID: PMC7068030

Genes

EXOSC2
MITF

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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