ArticleGenetics in medicine : official journal of the American College of Medical Genetics2019
Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 1 of them a synthesis that pooled it.
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Who cites it
29 citing papers in PubMed, 1 synthesis or guideline pooled it, 54 citations in OpenAlex.
- Genetic architecture distinguishes tinnitus from hearing loss.Nature communications · 2024Pooled it
- A novel splicing variant in TECTA associated with prelingual autosomal dominant nonsyndromic hearing loss via dominant-negative effect.Human molecular genetics · 2025Article
- [The cochlear extracellular matrix gene mutations and hearing loss].Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2025Review
- Collagen Alpha 1(XI) Amino-Terminal Domain Modulates Type I Collagen Fibril Assembly.Biochemistry · 2025Article
- Tectorial membrane: structure, function, and its implications for hearing loss.Frontiers in neurology · 2025Review
- Comparison of GWAS results between de novo tinnitus and cancer treatment-related tinnitus suggests distinctive roles for genetic risk factors.Scientific reports · 2024Article
- shinyseg: a web application for flexible cosegregation and sensitivity analysis.Bioinformatics (Oxford, England) · 2024Article
- Article
- Genetically inspired organoids prevent joint degeneration and alleviate chondrocyte senescence via Col11a1-HIF1α-mediated glycolysis-OXPHOS metabolism shift.Clinical and translational medicine · 2024Article
- Functional evaluation of rare variants in complement factor I using a minigene assay.Frontiers in immunology · 2024Article
- Autosomal Dominant Non-Syndromic Hearing Loss (DFNA): A Comprehensive Narrative Review.Biomedicines · 2023Review
- Acute Noise Causes Down-Regulation of ECM Protein Expression in Guinea Pig Cochlea.Molecular biotechnology · 2023Article
- A recurrent variant inOphthalmic genetics · 2022Article
- A novel missense variant in CEACAM16 gene causes autosomal dominant nonsyndromic hearing loss.Annals of human genetics · 2022Article
- Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology.Nature communications · 2022Article
- Comprehensive molecular-genetic analysis of mid-frequency sensorineural hearing loss.Scientific reports · 2021Article
- NCOA3 identified as a new candidate to explain autosomal dominant progressive hearing loss.Human molecular genetics · 2021Article
- Bioinformatics Analysis of a Prognostic miRNA Signature and Potential Key Genes in Pancreatic Cancer.Frontiers in oncology · 2021Article
- Article
- Identification of Novel and Recurrent Variants inFrontiers in genetics · 2021Article
Corrections and comments
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Authors and funding
14 authors at 8 institutions in 3 countries.
Funding
Abstract
purposeThe aim of this study was to determine the genetic cause of autosomal dominant nonsyndromic hearing loss segregating in a multigenerational family.
methodsClinical examination, genome-wide linkage analysis, and exome sequencing were carried out on the family.
resultsAffected individuals presented with early-onset progressive mild hearing impairment with a fairly flat, gently downsloping or U-shaped audiogram configuration. Detailed clinical examination excluded any additional symptoms. Linkage analysis detected an interval on chromosome 1p21 with a logarithm of the odds (LOD) score of 8.29: designated locus DFNA37. Exome sequencing identified a novel canonical acceptor splice-site variant c.652-2A>C in the COL11A1 gene within the DFNA37 locus. Genotyping of all 48 family members confirmed segregation of this variant with the deafness phenotype in the extended family. The c.652-2A>C variant is novel, highly conserved, and confirmed in vitro to alter RNA splicing.
conclusionWe have identified COL11A1 as the gene responsible for deafness at the DFNA37 locus. Previously, COL11A1 was solely associated with Marshall and Stickler syndromes. This study expands its phenotypic spectrum to include nonsyndromic deafness. The implications of this discovery are valuable in the clinical diagnosis, prognosis, and treatment of patients with COL11A1 pathogenic variants.
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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.