ArticleThe Annals of otology, rhinology, and laryngology2015
Novel PTPRQ mutations identified in three congenital hearing loss patients with various types of hearing loss.
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 11 papers.
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Who cites it
11 citing papers in PubMed, 21 citations in OpenAlex.
- Detailed Clinical Features ofGenes · 2024Article
- NovelFrontiers in genetics · 2024Article
- Delayed progressive sensorineural hearing loss due to a novel compound heterozygous PTPRQ mutation in a Chinese patient.Journal of clinical laboratory analysis · 2023Article
- The genetic etiology of hearing loss in Japan revealed by the social health insurance-based genetic testing of 10K patients.Human genetics · 2022Review
- Targeted Next-Generation Sequencing Identified Novel Compound Heterozygous Variants in theFrontiers in genetics · 2022Article
- Identification of Novel Candidate Genes and Variants for Hearing Loss and Temporal Bone Anomalies.Genes · 2021Article
- First confirmatory study on PTPRQ as an autosomal dominant non-syndromic hearing loss gene.Journal of translational medicine · 2019Article
- Identification of Novel PTPRQ and MYO1A Mutations in An Iranian Pedigree with Autosomal Recessive Hearing Loss.Cell journal · 2018Article
- Autosomal Recessive Congenital Sensorineural Hearing Loss due to a Novel Compound Heterozygous PTPRQ Mutation in a Chinese Family.Neural plasticity · 2018Article
- Genetic causes of moderate to severe hearing loss point to modifiers.Clinical genetics · 2017Article
- Navigating genetic diagnostics in patients with hearing loss.Current opinion in pediatrics · 2016Review
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Authors and funding
14 authors at 3 institutions in 2 countries.
Funding
Abstract
objectivesWe present 3 patients with congenital sensorineural hearing loss (SNHL) caused by novel PTPRQ mutations, including clinical manifestations and phenotypic features.
methodsTwo hundred twenty (220) Japanese subjects with SNHL from unrelated and nonconsanguineous families were enrolled in the study. Targeted genomic enrichment with massively parallel DNA sequencing of all known nonsyndromic hearing loss genes was performed to identify the genetic cause of hearing loss.
resultsFour novel causative PTPRQ mutations were identified in 3 cases. Case 1 had progressive profound SNHL with a homozygous nonsense mutation. Case 2 had nonprogressive profound SNHL with a compound heterozygous mutation (nonsense and missense mutation). Case 3 had nonprogressive moderate SNHL with a compound heterozygous mutation (missense and splice site mutation). Caloric test and vestibular evoked myogenic potential (VEMP) test showed vestibular dysfunction in Case 1.
conclusionHearing loss levels and progression among the present cases were varied, and there seem to be no obvious correlations between genotypes and the phenotypic features of their hearing loss. The PTPRQ mutations appeared to be responsible for vestibular dysfunction.
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