ArticleJournal of medical genetics2015
Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder.
Article in Journal of medical genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 65 papers, 1 of them a synthesis that pooled it.
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Who cites it
65 citing papers in PubMed, 1 synthesis or guideline pooled it, 120 citations in OpenAlex.
- Cochlear Implantation Outcomes in Post Synaptic Auditory Neuropathies: A Systematic Review and Narrative Synthesis.The journal of international advanced otology · 2020Pooled it
- The Genetic Causes of Auditory Neuropathy: A Systematic Review.Journal of clinical medicine · 2026Review
- Identification and Functional Characterization of a Novel POU3F4 Frameshift Mutation in a Chinese Family.Life (Basel, Switzerland) · 2026Article
- Clinical and molecular characterization of a novel pathogenic AIFM1 E336K mutation connecting mitochondrial dysfunction and neurodegeneration.Cell communication and signaling : CCS · 2026Article
- A Structural Variant in the 5' Regulatory Region ofInternational archives of otorhinolaryngology · 2026Article
- Mitophagy Activation by N-Acetylcysteine Protects against Mic60 Deficiency-Induced Auditory Neuropathy.Neuroscience bulletin · 2026Article
- Abnormal iron homeostasis mediates cochlear hair cell impairment and hearing loss in Gprasp2-deficient mice.Communications biology · 2026Article
- Retrocochlear Auditory Dysfunctions (RADs) and Their Treatment: A Narrative Review.Audiology research · 2025Review
- Liquid-Liquid Phase Separation in Hereditary Hearing Loss.Neuroscience bulletin · 2025Review
- Next-Generation Sequencing to Detect Mutations for the Molecular Diagnosis of Auditory Neuropathy Spectrum Disorder in a Chinese Series.The journal of international advanced otology · 2025Article
- CHCHD4 Oxidoreductase Activity: A Comprehensive Analysis of the Molecular, Functional, and Structural Properties of Its Redox-Regulated Substrates.Molecules (Basel, Switzerland) · 2025Review
- Screening for Hearing Impairment in Newborns Using Targeted Genomic Sequencing: A Large Pilot Cohort Study.Clinical and experimental otorhinolaryngology · 2025Article
- [Research status and future strategies for refractory inner ear disease].Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2025Review
- Diffusion-Weighted Magnetic Resonance Imaging: A Diagnostic Tool for Auditory (Axonal) Neuropathy.European journal of neurology · 2025Article
- NovelNeurology. Genetics · 2024Article
- Genomic and phenotypic landscapes of X-linked hereditary hearing loss in the Chinese population.Orphanet journal of rare diseases · 2024Article
- AIF translocation into nucleus caused by Aifm1 R450Q mutation: generation and characterization of a mouse model for AUNX1.Human molecular genetics · 2024Article
- Modeling of auditory neuropathy spectrum disorders associated with theFrontiers in molecular neuroscience · 2024Article
- A Missense Variant in AIFM1 Caused Mitochondrial Dysfunction and Intolerance to Riboflavin Deficiency.Neuromolecular medicine · 2023Article
- Expanding the spectrum of neonatal-onset AIFM1-associated disorders.Annals of clinical and translational neurology · 2023Article
5 more citing papers are in PubMed but not listed here.
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Authors and funding
30 authors at 8 institutions in 3 countries.
Funding
Abstract
backgroundAuditory neuropathy spectrum disorder (ANSD) is a form of hearing loss in which auditory signal transmission from the inner ear to the auditory nerve and brain stem is distorted, giving rise to speech perception difficulties beyond that expected for the observed degree of hearing loss. For many cases of ANSD, the underlying molecular pathology and the site of lesion remain unclear. The X-linked form of the condition, AUNX1, has been mapped to Xq23-q27.3, although the causative gene has yet to be identified.
methodsWe performed whole-exome sequencing on DNA samples from the AUNX1 family and another small phenotypically similar but unrelated ANSD family.
resultsWe identified two missense mutations in AIFM1 in these families: c.1352G>A (p.R451Q) in the AUNX1 family and c.1030C>T (p.L344F) in the second ANSD family. Mutation screening in a large cohort of 3 additional unrelated families and 93 sporadic cases with ANSD identified 9 more missense mutations in AIFM1. Bioinformatics analysis and expression studies support this gene as being causative of ANSD.
conclusionsVariants in AIFM1 gene are a common cause of familial and sporadic ANSD and provide insight into the expanded spectrum of AIFM1-associated diseases. The finding of cochlear nerve hypoplasia in some patients was AIFM1-related ANSD implies that MRI may be of value in localising the site of lesion and suggests that cochlea implantation in these patients may have limited success.
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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.