ArticleMolecular genetics and genomics : MGG2015
Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53.
Article in Molecular genetics and genomics : MGG, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 2 of them syntheses that pooled it.
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Who cites it
18 citing papers in PubMed, 2 syntheses or guidelines pooled it, 31 citations in OpenAlex.
- Population-scale analysis of common and rare genetic variation associated with hearing loss in adults.Communications biology · 2022Pooled it
- Identification of Potential Meniere's Disease Targets in the Adult Stria Vascularis.Frontiers in neurology · 2021Pooled it
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- [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
- Knockout ofBiomedicines · 2024Article
- Case report: Autosomal recessive type 3 Stickler syndrome caused by compound heterozygous mutations inFrontiers in genetics · 2023Article
- Article
- Transcriptomic Analyses of Inner Ear Sensory Epithelia in Zebrafish.Anatomical record (Hoboken, N.J. : 2007) · 2020Article
- Review
- Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.Human mutation · 2018Article
- The triple helix of collagens - an ancient protein structure that enabled animal multicellularity and tissue evolution.Journal of cell science · 2018Review
- ELMOD3, a novel causative gene, associated with human autosomal dominant nonsyndromic and progressive hearing loss.Human genetics · 2018Article
- Genetics and genomic medicine in Tunisia.Molecular genetics & genomic medicine · 2018Article
- Dual Diagnosis of Ellis-van Creveld Syndrome and Hearing Loss in a Consanguineous Family.Molecular syndromology · 2017Article
- Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss.Scientific reports · 2016Article
- Research progress in pathogenic genes of hereditary non-syndromic mid-frequency deafness.Frontiers of medicine · 2016Review
- Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort.Genetics in medicine : official journal of the American College of Medical Genetics · 2016Article
- Characterization of ATPase Activity of P2RX2 Cation Channel.Frontiers in physiology · 2016Article
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Authors and funding
16 authors at 6 institutions in 3 countries.
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Abstract
Hearing loss (HL) is a major public health issue. It is clinically and genetically heterogeneous.The identification of the causal mutation is important for early diagnosis, clinical follow-up, and genetic counseling. HL due to mutations in COL11A2, encoding collagen type XI alpha-2, can be non-syndromic autosomal-dominant or autosomal-recessive, and also syndromic as in Otospondylomegaepiphyseal Dysplasia, Stickler syndrome type III, and Weissenbacher-Zweymuller syndrome. However, thus far only one mutation co-segregating with autosomal recessive non-syndromic hearing loss (ARNSHL) in a single family has been reported. In this study, whole exome sequencing of two consanguineous families with ARNSHL from Tunisia and Turkey revealed two novel causative COL11A2 mutations, c.109G > T (p.Ala37Ser) and c.2662C > A (p.Pro888Thr). The variants identified co-segregated with deafness in both families. All homozygous individuals in those families had early onset profound hearing loss across all frequencies without syndromic findings. The variants are predicted to be damaging the protein function. The p.Pro888Thr mutation affects a -Gly-X-Y- triplet repeat motif. The novel p.Ala37Ser is the first missense mutation located in the NC4 domain of the COL11A2 protein. Structural model suggests that this mutation will likely obliterate, or at least partially compromise, the ability of NC4 domain to interact with its cognate ligands. In conclusion, we confirm that COL11A2 mutations cause ARNSHL and broaden the mutation spectrum that may shed new light on genotype-phenotype correlation for the associated phenotypes and clinical follow-up.
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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.