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Article

A novel splicing mutation in SMPX is linked to nonsyndromic progressive hearing loss.

International journal of pediatric otorhinolaryngology - 1 Jan 2018

Niu Zhijie, Yan Denise, Bressler Sara, Mei Lingyun, Feng Yong, Liu Xuezhong

Abstract excerpt

OBJECTIVE: X-linked nonsyndromic hearing impairment is the rarest form of genetic hearing loss and represents only a minor fraction of all cases. The aim of this study was to investigate the cause of X-linked nonsyndromic sensorineural hearing loss in a three-generation American family. METHODS: Whole-exome sequencing and co-segregation analysis were used to identify disease-causing genes. RESULTS: In this study,...

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Source

Identifiers

PMID: 29287879
DOI: 10.1016/j.ijporl.2017.10.040

Genes

SMPX

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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