ArticleAmerican journal of human genetics2016
Mutations in CDC14A, Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound Deafness.
Article in American journal of human genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 1 of them a synthesis that pooled it.
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Who cites it
23 citing papers in PubMed, 1 synthesis or guideline pooled it, 46 citations in OpenAlex.
- Genetics and meta-analysis of recessive non-syndromic hearing impairment and Usher syndrome in Maghreb population: lessons from the past, contemporary actualities and future challenges.Human genetics · 2022Pooled it
- Genetics of prelingual isolated deafness and Usher syndrome in the Maghreb and Jordan: Harnessing the potential of homozygosity.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Splice-altering variant of PJVK gene in a Mauritanian family with non-syndromic hearing impairment.Journal of applied genetics · 2025Article
- Oligogenic effect is associated with the clinical heterogeneity of autosomal dominant deafness-15.Scientific reports · 2025Article
- Delineating the Disease Boundaries: HomozygousMolecular syndromology · 2024Article
- Genetic analysis of 106 sporadic cases with hearing loss in the UAE population.Human genomics · 2024Article
- Mammalian CDC14 phosphatases control exit from stemness in pluripotent cells.The EMBO journal · 2023Article
- Mutation spectrum of non-syndromic hearing loss in the UAE, a retrospective cohort study and literature review.Molecular genetics & genomic medicine · 2022Review
- Genetic etiology of hearing loss in Iran.Human genetics · 2022Review
- How Zebrafish Can Drive the Future of Genetic-based Hearing and Balance Research.Journal of the Association for Research in Otolaryngology : JARO · 2021Review
- Article
- Small fish, big prospects: using zebrafish to unravel the mechanisms of hereditary hearing loss.Hearing research · 2020Article
- Novel Loss-of-Function Variants inInternational journal of molecular sciences · 2020Article
- Brief Report of Variants Detected in Hereditary Hearing Loss Cases in Iran over a 3-Year Period.Iranian journal of public health · 2019Article
- Water Waves to Sound Waves: Using Zebrafish to Explore Hair Cell Biology.Journal of the Association for Research in Otolaryngology : JARO · 2019Review
- The role of retrograde intraflagellar transport genes in aminoglycoside-induced hair cell death.Biology open · 2019Article
- The human phosphatase CDC14A modulates primary cilium length by regulating centrosomal actin nucleation.EMBO reports · 2019Article
- Genetic Hearing Loss and Gene Therapy.Genomics & informatics · 2018Article
- AUDIOME: a tiered exome sequencing-based comprehensive gene panel for the diagnosis of heterogeneous nonsyndromic sensorineural hearing loss.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
- CDC14A phosphatase is essential for hearing and male fertility in mouse and human.Human molecular genetics · 2018Article
Corrections and comments
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Authors and funding
12 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 in the eight clinically affected individuals still alive. Subsequent screening of 115 unrelated individuals affected by severe or profound congenital deafness of unknown genetic cause led us to identify another CDC14A biallelic nonsense mutation, c.1015C>T (p.Arg339(∗)), in an individual originating from Mauritania. CDC14A encodes a protein tyrosine phosphatase. Immunofluorescence analysis of the protein distribution in the mouse inner ear showed a strong labeling of the hair cells' kinocilia. By using a morpholino strategy to knockdown cdc14a in zebrafish larvae, we found that the length of the kinocilia was reduced in inner-ear hair cells. Therefore, deafness caused by loss-of-function mutations in CDC14A probably arises from a morphogenetic defect of the auditory sensory cells' hair bundles, whose differentiation critically depends on the proper growth of their kinocilium.
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