ArticleOtology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology2014
Sensorineural hearing loss in people with deletions of 18q: hearing in 18q-.
Article in Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
What it found
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Who cites it
6 citing papers in PubMed, 10 citations in OpenAlex.
- Full etiologic spectrum of pediatric severe to profound hearing loss of consecutive 119 cases.Scientific reports · 2022Article
- Analysis of genetic characteristics of 436 children with dysplasia and detailed analysis of rare karyotype.Open life sciences · 2022Article
- Association between NR3C1 gene polymorphisms and age-related hearing impairment in Qingdao Chinese elderly.BMC medical genomics · 2021Article
- A novel de novoCold Spring Harbor molecular case studies · 2018Article
- InterstitialMolecular cytogenetics · 2016Article
- Age-related hearing impairment and the triad of acquired hearing loss.Frontiers in cellular neuroscience · 2015Review
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 1 country.
Funding
Abstract
objectiveThe objective of this study was to characterize hearing loss in individuals with deletions of distal chromsome18q and to identify the smallest region of overlap of their deletions, thereby identifying potential causative genes. STUDY
designThe clinical data were collected via a retrospective case study. Molecular data were obtained via high-resolution chromosome microarray analysis.
settingThe study was conducted as a component of the ongoing research protocols at the Chromosome 18 Clinical Research Center at the University of Texas Health Science Center at San Antonio. PATIENTS: Thirty-eight participants with a deletion of the distal portion of the long arm of chromosome 18 were recruited to this study.
interventionsThe participants underwent an otologic examination as well as a basic audiometry evaluation. Blood samples were obtained, and high-resolution chromosome microarray analysis was performed. MAIN OUTCOMES MEASURES: Pure tone averages and speech discrimination scores were determined for each participant. The region of hemizygosity for each participant was determined to within 2 Kb each of their breakpoints.
resultsTwenty-four participants (63%) had high-frequency hearing loss, similar to the pattern seen in presbycusis. Comparison of microarray results allowed identification of eight genes, including the candidate gene for dysmyelination (MBP).
conclusionIndividuals with a deletion of a 2.8 Mb region of 18q23 have a high probability (83%) of high-frequency sensorineural hearing loss.
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