ArticleJournal of medical genetics2006
AUNX1, a novel locus responsible for X linked recessive auditory and peripheral neuropathy, maps to Xq23-27.3.
Article in Journal of medical genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed.
- Identification of a Novel Likely Pathogenic Variant of DIAPH3 Associated With New Phenotype of Sensorineural Hearing Loss.Molecular genetics & genomic medicine · 2026Article
- Identification of genetic mechanisms of non-isolated auditory neuropathy with various phenotypes in Chinese families.Orphanet journal of rare diseases · 2025Article
- AIF translocation into nucleus caused by Aifm1 R450Q mutation: generation and characterization of a mouse model for AUNX1.Human molecular genetics · 2024Article
- Current trends and hotspots of etiology of auditory neuropathy in the past 30 years: A bibliometric analysis.Journal of otology · 2024Article
- Clinical and Molecular Aspects Associated with Defects in the Transcription Factor POU3F4: A Review.Biomedicines · 2023Review
- Article
- Identification of a novelFrontiers in genetics · 2022Article
- Electrocochleography in Auditory Neuropathy Related to Mutations in the OTOF or OPA1 Gene.Audiology research · 2021Review
- Mutations in LOXHD1 gene can cause auditory neuropathy spectrum disorder.Otolaryngology case reports · 2021Article
- High Frequency ofNeural plasticity · 2020Article
- Mutational and phenotypic spectrum of OTOF-related auditory neuropathy in Koreans: eliciting reciprocal interaction between bench and clinics.Journal of translational medicine · 2018Article
- X-Linked Sensorineural Hearing Loss: A Literature Review.Current genomics · 2018Review
- A novel mutation in the SMPX gene associated with X-linked nonsyndromic sensorineural hearing loss in a Chinese family.Journal of human genetics · 2018Article
- ATP1A3 mutations can cause progressive auditory neuropathy: a new gene of auditory synaptopathy.Scientific reports · 2017Article
- Novel compound heterozygous mutations in the OTOF Gene identified by whole-exome sequencing in auditory neuropathy spectrum disorder.BMC medical genetics · 2017Article
- Article
- Genetics of Tinnitus: Still in its Infancy.Frontiers in neuroscience · 2017Review
- Relationship Between Patients with Clinical Auditory Neuropathy Spectrum Disorder and Mutations in Gjb2 Gene.The open neurology journal · 2016Article
- Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder.Journal of medical genetics · 2015Article
- Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment.American journal of human genetics · 2011Article
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Authors and funding
16 authors.
Funding
Abstract
backgroundWe report here the genetic characterisation of a large five generation Chinese family with the phenotypic features of auditory neuropathy and progressive peripheral sensory neuropathy, and the genetic feature of X linked recessive inheritance. Disease onset was at adolescence (at an average age of 13 years for six affected subjects). The degree of hearing impairment varied from mild to severe, with decreased otoacoustic emissions; auditory brainstem responses were lacking from onset.
methodsTwo-point and multipoint model based linkage analysis using the MILNK and LINKMAP programs of the FASTLINK software package produced maximum two-point and multipoint LOD scores of 2.41 and 2.41, respectively.
resultsThese findings define a novel X linked auditory neuropathy locus/region (AUNX1, Xq23-q27.3). This region is 42.09 cM long and contains a 28.07 Mb region with flanking markers DXS1220 and DXS8084, according to the Rutgers Combined Linkage-Physical Map, build 35. However, mutation screen of the candidate gene SLC6A14 within the region did not identify the causative genetic determinant for this large Chinese family.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.