Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Whole Exome Sequencing Identified a Novel Mutation in the LOXHD1 Gene in Consanguineous Iranian Families With Hearing Loss.

Journal of clinical laboratory analysis - 1 Sept 2026

Katiraei Solmaz Hassani Fard, Gholami Milad, Soosanabadi Mohsen, Entezam Mona, Dastgheib Seyed Alireza

Abstract excerpt

BACKGROUND: Hearing loss is one of the most common sensory disorders caused by genetic and environmental factors. Autosomal recessive non-syndromic hearing loss (ARNSHL) is extremely heterogeneous, with over 100 genes known to be involved. Hearing loss can result from mutations in the LOXHD1 gene, which codes a highly conserved protein known as lipoxygenase and is located at 18q21.1. Despite the association...

Read the complete abstract on PubMed

Topics

Humans
Consanguinity
Female
Iran
Pedigree
Exome Sequencing
Male

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Receptors, Cell Surface

Mutation

Hearing Loss

Carrier Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 42613899
DOI: 10.1002/jcla.70327
PMCID: PMC13487026

Genes

LOXHD1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 24 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Whole Exome Sequencing Identified a Novel Mutation in the LOXHD1 Gene in Consanguineous Iranian Families With Hearing Loss.PMID 42613899Read ↗

Five Novel Mutations in LOXHD1 Gene Were Identified to Cause Autosomal Recessive Nonsyndromic Hearing Loss in Four Chinese Families.Semantic proximity Read ↗

Exome sequencing utility in defining the genetic landscape of hearing loss and novel-gene discovery in Iran.Semantic proximity Read ↗

Mutational Spectrum and Clinical Features of Patients with LOXHD1 Variants Identified in an 8074 Hearing Loss Patient CohortSemantic proximity Read ↗

Recessive LOXHD1 variants cause a prelingual down-sloping hearing loss: genotype-phenotype correlation and three additional children with novel variants.Semantic proximity Read ↗

Variant analysis of 92 Chinese Han families with hearing loss.Semantic proximity Read ↗

Next-generation sequencing facilitates genetic diagnosis and improves the management of patients with hearing loss in clinical practice.Semantic proximity Read ↗

Recessive LOXHD1 Variants Cause a Milder Prelingual Hearing Loss: Genotype-Phenotype Correlation and Three Additional Patients With Novel VariantsSemantic proximity Read ↗

Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran.Semantic proximity Read ↗

Whole-Exome Sequencing Efficiently Detects Rare Mutations in Autosomal Recessive Nonsyndromic Hearing LossSemantic proximity Read ↗

A novel pathogenic variant in the LRTOMT gene causes autosomal recessive non-syndromic hearing loss in an Iranian family.Semantic proximity Read ↗

Identification of novel gene variants causing autosomal recessive non-syndromic hearing loss in Iranian familiesSemantic proximity Read ↗

Identification of novel variants in Iranian consanguineous pedigrees with nonsyndromic hearing loss by next-generation sequencing.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.