ArticleLaryngoscope investigative otolaryngology2022
A novel
Article in Laryngoscope investigative otolaryngology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 11 citations in OpenAlex.
- Development and optimization of Eva1 (Journal for immunotherapy of cancer · 2025Article
- Hearing restoration by gene replacement therapy for a multisite-expressed gene in a mouse model of human DFNB111 deafness.American journal of human genetics · 2024Article
- MPZL2-a common autosomal recessive deafness gene related to moderate sensorineural hearing loss in the Chinese population.BMC medical genomics · 2024Article
- [Genetic characteristic analysis of slight-to-moderate sensorineural hearing loss in children].Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2024Article
- Development of a basement membrane gene signature and identification of the potential candidate therapeutic targets for pancreatic cancer.Gland surgery · 2023Article
- A novelLaryngoscope investigative otolaryngology · 2022Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Objective: The aim of this study was to identify genetic etiology in two unrelated Chinese probands with progressive sensorineural hearing loss. Methods: Two unrelated Chinese families were recruited. Genetic etiology was identified by targeted next-generation sequencing (NGS) and verified by Sanger sequencing. Hearing evaluations included pure tone audiometry, auditory brainstem response to clicks, and otoscopic examination. Medical history and computerized tomography scan of temporal bone were also collected. In addition, linear regression was used to summarize all of the reported cases and estimate the progression of hearing loss. Results: A 28-year-old man with variant c.68delC had progressive, moderately severe hearing loss and a suspicious history of renal impairment. His hearing result was 63.75 dB HL. The other proband was the youngest patient with MPZL2-related hearing loss reported so far in the literature (genotype: c.220C>T homozygote). Her hearing result by click-ABR was 25 dB nHL at 3 months of age, and deteriorated to 40 dB nHL at 15 months. Behavioral audiometry identified a hearing loss of 26.25 dB HL. In summarizing all of the reported cases, using linear regression, MPZL2-related hearing loss may deteriorate by 0.59 dB HL per year, and different MPZL2 variants may lead to different rates of progression. Conclusion: In this study, we first identified two unrelated patients with
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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.