ArticleThe Annals of otology, rhinology, and laryngology2015
Mutations in LOXHD1 gene cause various types and severities 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 19 papers.
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Who cites it
19 citing papers in PubMed, 33 citations in OpenAlex.
- RanBALL: An Ensemble Machine Learning Framework for Accurate Subtype Identification of Pediatric B-Cell Acute Lymphoblastic Leukemia.Advanced intelligent systems (Weinheim an der Bergstrasse, Germany) · 2026Article
- LOXHD1b knockout alters swimming behavior in zebrafish.Cell and tissue research · 2025Article
- Multi-omics profiling reveals key factors involved in Ewing sarcoma metastasis.Molecular oncology · 2025Article
- LOXHD1 is indispensable for maintaining TMC1 auditory mechanosensitive channels at the site of force transmission.Nature communications · 2024Article
- LOXHD1 is indispensable for coupling auditory mechanosensitive channels to the site of force transmission.Research square · 2024Article
- A novelFrontiers in cellular neuroscience · 2024Article
- Ambient air pollution during pregnancy and DNA methylation in umbilical cord blood, with potential mediation of associations with infant adiposity: The Healthy Start study.Environmental research · 2022Article
- The genetic etiology of hearing loss in Japan revealed by the social health insurance-based genetic testing of 10K patients.Human genetics · 2022Review
- Missense variant in LOXHD1 is associated with canine nonsyndromic hearing loss.Human genetics · 2021Article
- Mutations in LOXHD1 gene can cause auditory neuropathy spectrum disorder.Otolaryngology case reports · 2021Article
- Article
- Novel loss-of-function mutations in COCH cause autosomal recessive nonsyndromic hearing loss.Human genetics · 2020Article
- Cochlear Implantation From the Perspective of Genetic Background.Anatomical record (Hoboken, N.J. : 2007) · 2020Review
- Five Novel Mutations in LOXHD1 Gene Were Identified to Cause Autosomal Recessive Nonsyndromic Hearing Loss in Four Chinese Families.BioMed research international · 2020Article
- A novelThe Journal of international medical research · 2019Article
- Article
- Whole-exome sequencing identifies a novel missense variant within LOXHD1 causing rare hearing loss in a Chinese family.BMC medical genetics · 2019Article
- Navigating genetic diagnostics in patients with hearing loss.Current opinion in pediatrics · 2016Review
- Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss.PloS one · 2015Article
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Authors and funding
9 authors at 3 institutions in 2 countries.
Funding
Abstract
objectiveWe present 2 families that were identified with novel mutations in LOXHD1 as a cause of nonprogressive hearing loss.
methodsOne thousand three hundred fourteen (1314) Japanese subjects with sensorineural hearing loss from unrelated families were enrolled in the study. Targeted genomic enrichment and massively parallel sequencing of all known nonsyndromic hearing loss genes were performed to identify the genetic cause of hearing loss.
resultsTwo patients in 1 family affected with homozygous mutation c.879+1G>A in LOXHD1 showed profound congenital hearing loss, whereas 2 patients in another family with compound heterozygous mutations, c.5869G>T (p.E1957X) and c.4480C>T (p.R1494X), showed moderate to severe hearing loss.
conclusionMutations in LOXHD1 are extremely rare, and these cases are the first identified in a Japanese population. The genotype-phenotype correlation in LOXHD1 is still unclear. The differences in phenotypes in each patient might be the result of the nature of the mutations or the location on the gene, or be influenced by a genetic modifier.
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