دورية أكاديمية
أعرض في EDS

Genetic Causes of Hearing Loss in a Large Cohort of Cochlear Implant Recipients.

التفاصيل البيبلوغرافية
العنوان: Genetic Causes of Hearing Loss in a Large Cohort of Cochlear Implant Recipients.
المؤلفون: Seligman KL; Department of Otolaryngology-Head & Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA., Shearer AE; Department of Otolaryngology-Head & Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA.; Boston Children's Hospital, Department of Otolaryngology & Communication Enhancement, Harvard Medical School, Boston, Massachusetts, USA., Frees K; Department of Otolaryngology-Head & Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA., Nishimura C; Department of Otolaryngology-Head & Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA., Kolbe D; Department of Otolaryngology-Head & Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA., Dunn C; Department of Otolaryngology-Head & Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA., Hansen MR; Department of Otolaryngology-Head & Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA., Gantz BJ; Department of Otolaryngology-Head & Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA., Smith RJH; Department of Otolaryngology-Head & Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA.; Interdepartmental PhD Program in Genetics, University of Iowa, Iowa City, Iowa, USA.; Department of Molecular Physiology & Biophysics, University of Iowa College of Medicine, Iowa City, Iowa, USA.
المصدر: Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery [Otolaryngol Head Neck Surg] 2022 Apr; Vol. 166 (4), pp. 734-737. Date of Electronic Publication: 2021 Jun 22.
نوع المنشور: Journal Article; Research Support, N.I.H., Extramural
اللغة: English
بيانات الدورية: Publisher: Wiley Country of Publication: England NLM ID: 8508176 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-6817 (Electronic) Linking ISSN: 01945998 NLM ISO Abbreviation: Otolaryngol Head Neck Surg Subsets: MEDLINE
أسماء مطبوعة: Publication: 2023- : [Oxford] : Wiley
Original Publication: [Rochester, Minn.] : The Academy, [c1981-
مواضيع طبية MeSH: Cochlear Implantation* , Cochlear Implants* , Deafness*/genetics , Hearing Loss*/genetics , Hearing Loss*/surgery, Adult ; Child ; Cohort Studies ; Humans ; Membrane Proteins/genetics ; Neoplasm Proteins ; Serine Endopeptidases/genetics
مستخلص: Understanding genetic causes of hearing loss can determine the pattern and course of a patient's hearing loss and may also predict outcomes after cochlear implantation. Our goal in this study was to evaluate genetic causes of hearing loss in a large cohort of adults and children with cochlear implants. We performed comprehensive genetic testing on all patients undergoing cochlear implantation. Of the 459 patients included in the study, 128 (28%) had positive genetic testing. In total, 44 genes were identified as causative. The top 5 genes implicated were GJB2 (20, 16%), TMPRSS3 (13, 10%), SLC26A4 (10, 8%), MYO7A (9, 7%), and MT-RNR1 (7, 5%). Pediatric patients had a higher diagnostic rate. This study lays the groundwork for future studies evaluating the relationship between genetic variation and cochlear implant performance.
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معلومات مُعتمدة: P50 DC000242 United States DC NIDCD NIH HHS; R01 DC002842 United States DC NIDCD NIH HHS; R01 DC012049 United States DC NIDCD NIH HHS; R01 DC017955 United States DC NIDCD NIH HHS
فهرسة مساهمة: Keywords: cochlear implants; genetic epidemiology; genetic hearing loss
المشرفين على المادة: 0 (Membrane Proteins)
0 (Neoplasm Proteins)
EC 3.4.21.- (Serine Endopeptidases)
EC 3.4.21.- (TMPRSS3 protein, human)
تواريخ الأحداث: Date Created: 20210622 Date Completed: 20220405 Latest Revision: 20240331
رمز التحديث: 20240331
مُعرف محوري في PubMed: PMC9128025
DOI: 10.1177/01945998211021308
PMID: 34154485
قاعدة البيانات: MEDLINE
الوصف
تدمد:1097-6817
DOI:10.1177/01945998211021308