ArticleAmerican journal of human genetics2011
Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42.
Article in American journal of human genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 61 papers, 2 of them syntheses that pooled it.
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Who cites it
61 citing papers in PubMed, 2 syntheses or guidelines pooled it, 119 citations in OpenAlex.
- Biological insights from multi-omic analysis of 31 genomic risk loci for adult hearing difficulty.PLoS genetics · 2020Pooled it
- Genome-wide association meta-analysis identifies five novel loci for age-related hearing impairment.Scientific reports · 2019Pooled it
- Association between chronic stress and the epigenome: Exploration of psychological and biological stress.PloS one · 2026Article
- Recurrent and Novel Pathogenic Variants in Genes Involved with Hearing Loss in the Pakistani Population.Molecular diagnosis & therapy · 2025Article
- Autosomal recessive non-syndromic hearing loss genes in Pakistan during the previous three decades.Journal of cellular and molecular medicine · 2024Review
- Autosomal Recessive Non-Syndromic Deafness: Is AAV Gene Therapy a Real Chance?Audiology research · 2024Review
- Cingulin regulates hair cell cuticular plate morphology and is required for hearing in human and mouse.EMBO molecular medicine · 2023Article
- Mutations in human DNA methyltransferase DNMT1 induce specific genome-wide epigenomic and transcriptomic changes in neurodevelopment.Human molecular genetics · 2023Article
- Combined AAV-mediated gene replacement therapy improves auditory function in a mouse model of human DFNB42 deafness.Molecular therapy : the journal of the American Society of Gene Therapy · 2023Article
- Analysis of genetic dominance in the UK Biobank.Science (New York, N.Y.) · 2023Article
- Alternative splicing in shaping the molecular landscape of the cochlea.Frontiers in cell and developmental biology · 2023Review
- ARNSHL gene identification: past, present and future.Molecular genetics and genomics : MGG · 2022Review
- FOXO3/TGF-β signal-dependent ciliogenesis and cell functions during differentiation of temperature-sensitive mouse cochlear precursor hair cells.Histochemistry and cell biology · 2022Article
- Genetic etiology of hearing loss in Iran.Human genetics · 2022Review
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- Angulin-1 seals tricellular contacts independently of tricellulin and claudins.The Journal of cell biology · 2021Article
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- Corticosteroid enhances epithelial barrier function in intestinal organoids derived from patients with Crohn's disease.Journal of molecular medicine (Berlin, Germany) · 2021Article
- NCOA3 identified as a new candidate to explain autosomal dominant progressive hearing loss.Human molecular genetics · 2021Article
- Small fish, big prospects: using zebrafish to unravel the mechanisms of hereditary hearing loss.Hearing research · 2020Article
1 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
42 authors at 19 institutions in 5 countries.
Funding
Abstract
By using homozygosity mapping in a consanguineous Pakistani family, we detected linkage of nonsyndromic hearing loss to a 7.6 Mb region on chromosome 3q13.31-q21.1 within the previously reported DFNB42 locus. Subsequent candidate gene sequencing identified a homozygous nonsense mutation (c.1135G>T [p.Glu379X]) in ILDR1 as the cause of hearing impairment. By analyzing additional consanguineous families with homozygosity at this locus, we detected ILDR1 mutations in the affected individuals of 10 more families from Pakistan and Iran. The identified ILDR1 variants include missense, nonsense, frameshift, and splice-site mutations as well as a start codon mutation in the family that originally defined the DFNB42 locus. ILDR1 encodes the evolutionarily conserved immunoglobulin-like domain containing receptor 1, a putative transmembrane receptor of unknown function. In situ hybridization detected expression of Ildr1, the murine ortholog, early in development in the vestibule and in hair cells and supporting cells of the cochlea. Expression in hair cell- and supporting cell-containing neurosensory organs is conserved in the zebrafish, in which the ildr1 ortholog is prominently expressed in the developing ear and neuromasts of the lateral line. These data identify loss-of-function mutations of ILDR1, a gene with a conserved expression pattern pointing to a conserved function in hearing in vertebrates, as underlying nonsyndromic prelingual sensorineural hearing impairment.
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