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Article

ESRP1 Mutations Cause Hearing Loss due to Defects in Alternative Splicing that Disrupt Cochlear Development.

Developmental cell - 6 Nov 2017

Rohacek Alex M, Bebee Thomas W, Tilton Richard K, Radens Caleb M, McDermott-Roe Chris, Peart Natoya, Kaur Maninder, Zaykaner Michael, Cieply Benjamin, Musunuru Kiran, Barash Yoseph, Germiller John A, Krantz Ian D, Carstens Russ P, Epstein Douglas J

Abstract excerpt

Alternative splicing contributes to gene expression dynamics in many tissues, yet its role in auditory development remains unclear. We performed whole-exome sequencing in individuals with sensorineural hearing loss (SNHL) and identified pathogenic mutations in Epithelial Splicing-Regulatory Protein 1 (ESRP1). Patient-derived induced pluripotent stem cells showed alternative splicing defects that were restored...

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Identifiers

PMID: 29107558
DOI: 10.1016/j.devcel.2017.09.026
PMCID: PMC5687886

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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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