ArticleMolecular biology reports2017
Novel compound heterozygous mutations in the GPR98 (USH2C) gene identified by whole exome sequencing in a Moroccan deaf family.
Article in Molecular biology reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis that pooled it.
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Who cites it
10 citing papers in PubMed, 1 synthesis or guideline pooled it, 13 citations in OpenAlex.
- Hearing Impairment in South Africa and the Lessons Learned for Planetary Health Genomics: A Systematic Review.Omics : a journal of integrative biology · 2022Pooled it
- Genetic diversity of Usher syndrome in Moroccan patients.Human genetics · 2026Article
- Detailed Clinical, Ophthalmic, and Genetic Characterization of ADGRV1-Associated Usher Syndrome.American journal of ophthalmology · 2023Article
- Combined Presence in Heterozygosis of Two Variant Usher Syndrome Genes in Two Siblings Affected by Isolated Profound Age-Related Hearing Loss.Biomedicines · 2023Article
- Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies.Orphanet journal of rare diseases · 2022Review
- Genetic heterogeneity in GJB2, COL4A3, ATP6V1B1 and EDNRB variants detected among hearing impaired families in Morocco.Molecular biology reports · 2022Article
- Custom Next-Generation Sequencing Identifies Novel Mutations Expanding the Molecular and clinical spectrum of isolated Hearing Impairment or along with defects of the retina, the thyroid, and the kidneys.Molecular genetics & genomic medicine · 2022Article
- Characteristics of Retinitis Pigmentosa Associated withInternational journal of molecular sciences · 2021Article
- Gpr125 Marks Distinct Cochlear Cell Types and Is Dispensable for Cochlear Development and Hearing.Frontiers in cell and developmental biology · 2021Article
- DissectingFrontiers in genetics · 2019Article
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In the present work, we identified two novel compound heterozygote mutations in the GPR98 (G protein-coupled receptor 98) gene causing Usher syndrome. Whole-exome sequencing was performed to study the genetic causes of Usher syndrome in a Moroccan family with three affected siblings. We identify two novel compound heterozygote mutations (c.1054C > A, c.16544delT) in the GPR98 gene in the three affected siblings carrying post-linguale bilateral moderate hearing loss with normal vestibular functions and before installing visual disturbances. This is the first time that mutations in the GPR98 gene are described in the Moroccan deaf patients.
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Registered trials
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