ArticleGenetics in medicine : official journal of the American College of Medical Genetics2018
Recurrent variants in OTOF are significant contributors to prelingual nonsydromic hearing loss in Saudi patients.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed.
- The prevalence of protein misfolding as a mechanism for hereditary deafness.PLoS genetics · 2026Article
- Biallelic MINAR2 variant is associated with nonsyndromic severe to profound sensorineural hearing loss.Human genome variation · 2025Article
- Unraveling the complex genetic landscape of OTOF-related hearing loss: a deep dive into cryptic variants and haplotype phasing.Molecular medicine (Cambridge, Mass.) · 2025Article
- [The natural history of the relationship betweenLin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2025Review
- UtilizingJournal of developmental biology · 2025Review
- Molecular and Clinical Characterization of a Cohort of Autosomal Recessive Sensorineural Hearing Loss in Egyptian Patients.Journal of molecular neuroscience : MN · 2024Article
- Autoinhibition and activation of myosin VI revealed by its cryo-EM structure.Nature communications · 2024Article
- The natural history, clinical outcomes, and genotype-phenotype relationship of otoferlin-related hearing loss: a systematic, quantitative literature review.Human genetics · 2023Review
- Temperature-Sensitive Auditory Neuropathy: Report of a Novel Variant of OTOF Gene and Review of Current Literature.Medicina (Kaunas, Lithuania) · 2023Article
- Genetic etiology of hereditary hearing loss in the Gulf Cooperation Council countries.Human genetics · 2022Review
- Detailed clinical features and genotype-phenotype correlation in an OTOF-related hearing loss cohort in Japan.Human genetics · 2022Article
- Novel pathogenic mutations and further evidence for clinical relevance of genes and variants causing hearing impairment in Tunisian population.Journal of advanced research · 2021Article
- Article
- Congenital Deafness and Recent Advances Towards Restoring Hearing Loss.Current protocols · 2021Article
- Molecular diagnosis of non-syndromic hearing loss patients using a stepwise approach.Scientific reports · 2021Article
- A splice-site variant (c.3289-1G>T) in OTOF underlies profound hearing loss in a Pakistani kindred.BMC medical genomics · 2021Article
- Familial Temperature-Sensitive Auditory Neuropathy: Distinctive Clinical Courses Caused by Variants of theFrontiers in cell and developmental biology · 2021Article
- OTOF mutation analysis with massively parallel DNA sequencing in 2,265 Japanese sensorineural hearing loss patients.PloS one · 2019Article
- Auditory Neuropathy Spectrum Disorder due to Two Novel Compound HeterozygousNeural plasticity · 2019Article
- Audiological Phenotype, Natural History, and Intervention in Chinese Patients With Auditory Neuropathy Caused by OTOF Variants.Ear and hearingArticle
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8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
PurposeHearing loss is more prevalent in the Saudi Arabian population than in other populations; however, the full range of genetic etiologies in this population is unknown. We report the genetic findings from 33 Saudi hearing-loss probands of tribal ancestry, with predominantly prelingual severe to profound hearing loss.MethodsTesting was performed over the course of 2012-2016, and involved initial GJB2 sequence and GJB6-D13S1830 deletion screening, with negative cases being reflexed to a next-generation sequencing panel with 70, 71, or 87 hearing-loss genes.ResultsA "positive" result was reached in 63% of probands, with two recurrent OTOF variants (p.Glu57* and p.Arg1792His) accountable for a third of all "positive" cases. The next most common cause was pathogenic variants in MYO7A and SLC26A4, each responsible for three "positive" cases. Interestingly, only one "positive" diagnosis had a DFNB1-related cause, due to a homozygous GJB6-D13S1830 deletion, and no sequence variants in GJB2 were detected.ConclusionOur findings implicate OTOF as a potential major contributor to hearing loss in the Saudi population, while highlighting the low contribution of GJB2, thus offering important considerations for clinical testing strategies for Saudi patients. Further screening of Saudi patients is needed to characterize the genetic spectrum in this population.
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