ArticleThe Annals of otology, rhinology, and laryngology2015
USH2 caused by GPR98 mutation diagnosed by massively parallel sequencing in advance of the occurrence of visual symptoms.
Article in The Annals of otology, rhinology, and laryngology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
What it found
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Who cites it
6 citing papers in PubMed, 11 citations in OpenAlex.
- Combined Presence in Heterozygosis of Two Variant Usher Syndrome Genes in Two Siblings Affected by Isolated Profound Age-Related Hearing Loss.Biomedicines · 2023Article
- Milestones toward cochlear gene therapy for patients with hereditary hearing loss.Laryngoscope investigative otolaryngology · 2021Review
- Gpr125 Marks Distinct Cochlear Cell Types and Is Dispensable for Cochlear Development and Hearing.Frontiers in cell and developmental biology · 2021Article
- Adhesion G-protein coupled receptors and extracellular matrix proteins: Roles in myelination and glial cell development.Developmental dynamics : an official publication of the American Association of Anatomists · 2017Review
- Navigating genetic diagnostics in patients with hearing loss.Current opinion in pediatrics · 2016Review
- Frequency of Usher syndrome type 1 in deaf children by massively parallel DNA sequencing.Journal of human genetics · 2016Article
Corrections and comments
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Authors and funding
10 authors at 2 institutions in 2 countries.
Funding
Abstract
objectiveWe present 2 patients who were identified with mutations in the GPR98 gene that causes Usher syndrome type 2 (USH2).
methodsOne hundred ninety-four (194) Japanese subjects from unrelated families were enrolled in the study. Targeted genomic enrichment and massively parallel sequencing of all known nonsyndromic hearing loss genes were used to identify the genetic causes of hearing loss.
resultsWe identified causative mutations in the GPR98 gene in 1 family (2 siblings). The patients had moderate sloping hearing loss, and no progression was observed over a period of 10 years. Fundus examinations were normal. However, electroretinograms revealed impaired responses in both patients.
conclusionEarly diagnosis of Usher syndrome has many advantages for patients and their families. This study supports the use of comprehensive genetic diagnosis for Usher syndrome, especially prior to the onset of visual symptoms, to provide the highest chance of diagnostic success in early life stages.
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