ArticleJournal of the Association for Research in Otolaryngology : JARO2006
A novel TECTA mutation in a Dutch DFNA8/12 family confirms genotype-phenotype correlation.
Article in Journal of the Association for Research in Otolaryngology : JARO, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 54 citations in OpenAlex.
- Trial
- Clinical relevance of the TECTA c.6183G>T variant identified in a family with autosomal dominant hearing loss: a case report.Croatian medical journal · 2023Article
- Autosomal Dominant Non-Syndromic Hearing Loss (DFNA): A Comprehensive Narrative Review.Biomedicines · 2023Review
- Predicting pathogenicity for novel hearing loss mutations based on genetic and protein structure approaches.Scientific reports · 2022Article
- A comparative analysis of genetic hearing loss phenotypes in European/American and Japanese populations.Human genetics · 2020Article
- The Prevalence and Clinical Characteristics ofGenes · 2019Article
- The TECTA mutation R1890C is identified as one of the causes of genetic hearing loss: a case report.BMC medical genetics · 2019Article
- Prevalence of TECTA mutation in patients with mid-frequency sensorineural hearing loss.Orphanet journal of rare diseases · 2017Article
- Research progress in pathogenic genes of hereditary non-syndromic mid-frequency deafness.Frontiers of medicine · 2016Review
- Where hearing starts: the development of the mammalian cochlea.Journal of anatomy · 2016Review
- Screening of genetic alterations related to non-syndromic hearing loss using MassARRAY iPLEX® technology.BMC medical genetics · 2015Article
- Three deaf mice: mouse models for TECTA-based human hereditary deafness reveal domain-specific structural phenotypes in the tectorial membrane.Human molecular genetics · 2014Article
- A rare novel mutation in TECTA causes autosomal dominant nonsyndromic hearing loss in a Mongolian family.BMC medical genetics · 2014Article
- Whole-exome sequencing identifies a novel genotype-phenotype correlation in the entactin domain of the known deafness gene TECTA.PloS one · 2014Article
- A novel mutation in the TECTA gene in a Chinese family with autosomal dominant nonsyndromic hearing loss.PloS one · 2014Article
- Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment.American journal of human genetics · 2012Article
- Biophysical mechanisms underlying outer hair cell loss associated with a shortened tectorial membrane.Journal of the Association for Research in Otolaryngology : JARO · 2011Article
- DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss.Human mutation · 2011Article
- The tectorial membrane: one slice of a complex cochlear sandwich.Current opinion in otolaryngology & head and neck surgery · 2008Review
- Characterization of a spontaneous, recessive, missense mutation arising in the Tecta gene.Journal of the Association for Research in Otolaryngology : JARO · 2008Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A novel TECTA mutation, p.R1890C, was found in a Dutch family with nonsyndromic autosomal dominant sensorineural hearing impairment. In early life, presumably congenital, hearing impairment occurred in the midfrequency range, amounting to about 40 dB at 1 kHz. Speech recognition was good with all phoneme recognition scores exceeding 90%. An intact horizontal vestibuloocular reflex was found in four tested patients. The missense mutation is located in the zona pellucida (ZP) domain of alpha-tectorin. Mutations affecting the ZP domain of alpha-tectorin are significantly associated with midfrequency hearing impairment. Substitutions affecting other amino acid residues than cysteines show a significant association with hearing impairment without progression. Indeed, in the present family progression seemed to be absent. In addition, the presently identified mutation affecting the ZP domain resulted in a substantially lesser degree of hearing impairment than was previously reported for DFNA8/12 traits with mutations affecting the ZP domain of alpha-tectorin.
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Registered trials
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.