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Article

Old gene, new phenotype: splice-altering variants in CEACAM16 cause recessive non-syndromic hearing impairment.

Journal of medical genetics - 1 Aug 2018

Booth Kevin T, Kahrizi Kimia, Najmabadi Hossein, Azaiez Hela, Smith Richard Jh

Abstract excerpt

BACKGROUND: Hearing loss is a genetically and phenotypically heterogeneous disorder. OBJECTIVES: The purpose of this study was to determine the genetic cause underlying the postlingual progressive hearing loss in two Iranian families. METHODS: We used OtoSCOPE, a next-generation sequencing platform targeting >150 genes causally linked to deafness, to screen two deaf probands. Data analysis was completed using a...

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Source

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Identifiers

PMID: 29703829
DOI: 10.1136/jmedgenet-2018-105349
PMCID: PMC6060001

Genes

CEACAM16

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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