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Article

Inframe deletion of human ESPN is associated with deafness, vestibulopathy and vision impairment.

Journal of medical genetics - 1 Jul 2018

Ahmed Zubair M, Jaworek Thomas J, Sarangdhar Gowri N, Zheng Lili, Gul Khitab, Khan Shaheen N, Friedman Thomas B, Sisk Robert A, Bartles James R, Riazuddin Sheikh, Riazuddin Saima

Abstract excerpt

BACKGROUND: Usher syndrome (USH) is a neurosensory disorder characterised by deafness, variable vestibular areflexia and vision loss. The aim of the study was to identify the genetic defect in a Pakistani family (PKDF1051) segregating USH. METHODS: Genome-wide linkage analysis was performed by using an Illumina linkage array followed by Sanger and exome sequencing. Heterologous cells and mouse organ of Corti...

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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: 29572253
DOI: 10.1136/jmedgenet-2017-105221
PMCID: PMC6232856

Genes

ESPN
ERG

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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