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Article

Mutations in CDC14A, Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound Deafness.

American journal of human genetics - 2 Jun 2016

Delmaghani Sedigheh, Aghaie Asadollah, Bouyacoub Yosra, El Hachmi Hala, Bonnet Crystel, Riahi Zied, Chardenoux Sebastien, Perfettini Isabelle, Hardelin Jean-Pierre, Houmeida Ahmed, Herbomel Philippe, Petit Christine

Abstract excerpt

By genetic linkage analysis in a large consanguineous Iranian family with eleven individuals affected by severe to profound congenital deafness, we were able to define a 2.8 Mb critical interval (at chromosome 1p21.2-1p21.1) for an autosomal-recessive nonsyndromic deafness locus (DFNB). Whole-exome sequencing allowed us to identify a CDC14A biallelic nonsense mutation, c.1126C>T (p.Arg376(∗)), which was present...

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Identifiers

PMID: 27259055
DOI: 10.1016/j.ajhg.2016.04.015
PMCID: PMC4908234

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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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