GJB2 mutations and degree of hearing loss: a multicenter study
| العنوان: | GJB2 mutations and degree of hearing loss: a multicenter study |
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| المؤلفون: | Pascale Hilbert, Carla Nishimura, Patrick L. M. Huygen, Francesca Gualandi, Eva Orzan, Jaroslaw Waligora, István Sziklai, Anne Françoise Roux, Delphine Feldmann, Edward S. Cohn, Felipe Moreno, Rafał Płoski, Heidi L. Rehm, Philip M. Kelley, Doris Nekahm-Heis, Kim Cryns, Sandrine Marlin, Pierangela Castorina, Nikolaus Blin, Cor W. R. J. Cremers, Alessandro Martini, Geneviève Lina-Granade, Deirdre Lucas, Paul Van de Heyning, Hans Henrik M. Dahl, Margaret A. Kenna, Françoise Denoyelle, Desirée du Sart, Nele Hilgert, Markus Pfister, Maria Bitner-Glindzicz, Lucy Jenkins, Lies H. Hoefsloot, Armagan Incesulu, Heikki Löppönen, Iris Schrijver, Tuija Löppönen, Rikkert L. Snoeckx, Umberto Ambrosetti, Céu Correia, Małgorzata Mueller-Malesińska, Lionel Van Maldergem, O. Bendová, Graça Fialho, Ignacio del Castillo, Tímea Tóth, Nathalie Pallares-Ruiz, Jerzy Bal, Agnete Parving, Joseph B. Roberson, Wojciech Wiszniewski, Karen B. Avraham, Ewa Nowakowska-Szyrwinska, Guy Van Camp, Alessandra Murgia, Richard J.H. Smith, Agneszka Pollak, Anna Frangulov, Michel Mondain, Pavel Seeman, Andreas R. Janecke, Karen Grønskov, Zippora Brownstein, Mustafa Tekin |
| المصدر: | American Journal of Human Genetics, 77, 945-57 American Journal of Human Genetics, 77, 6, pp. 945-57 The American journal of human genetics |
| سنة النشر: | 2005 |
| مصطلحات موضوعية: | Male, DNA Mutational Analysis, Compound heterozygosity, Gastroenterology, Severity of Illness Index, Connexins, 0302 clinical medicine, Gene Frequency, Genotype, Perception and Action [DCN 1], Neurosensory disorders [UMCN 3.3], Multicenter Studies as Topic, Genetics(clinical), 030223 otorhinolaryngology, Child, Genetics (clinical), Genetics, 0303 health sciences, medicine.diagnostic_test, biology, Homozygote, Articles, Middle Aged, 3. Good health, Connexin 26, Child, Preschool, Female, medicine.symptom, Functional Neurogenomics [DCN 2], GJB6, Adult, medicine.medical_specialty, Heterozygote, Adolescent, Hearing loss, Genes, Recessive, Genomic disorders and inherited multi-system disorders [IGMD 3], 03 medical and health sciences, Audiometry, Internal medicine, medicine, otorhinolaryngologic diseases, Humans, Allele, Hearing Loss, Allele frequency, Alleles, 030304 developmental biology, Aged, Retrospective Studies, business.industry, Genetic heterogeneity, Infant, Newborn, Infant, Cross-Sectional Studies, Mutation, biology.protein, Linear Models, business |
| الوصف: | Contains fulltext : 47828.pdf (Publisher’s version ) (Closed access) Hearing impairment (HI) affects 1 in 650 newborns, which makes it the most common congenital sensory impairment. Despite extraordinary genetic heterogeneity, mutations in one gene, GJB2, which encodes the connexin 26 protein and is involved in inner ear homeostasis, are found in up to 50% of patients with autosomal recessive nonsyndromic hearing loss. Because of the high frequency of GJB2 mutations, mutation analysis of this gene is widely available as a diagnostic test. In this study, we assessed the association between genotype and degree of hearing loss in persons with HI and biallelic GJB2 mutations. We performed cross-sectional analyses of GJB2 genotype and audiometric data from 1,531 persons, from 16 different countries, with autosomal recessive, mild-to-profound nonsyndromic HI. The median age of all participants was 8 years; 90% of persons were within the age range of 0-26 years. Of the 83 different mutations identified, 47 were classified as nontruncating, and 36 as truncating. A total of 153 different genotypes were found, of which 56 were homozygous truncating (T/T), 30 were homozygous nontruncating (NT/NT), and 67 were compound heterozygous truncating/nontruncating (T/NT). The degree of HI associated with biallelic truncating mutations was significantly more severe than the HI associated with biallelic nontruncating mutations (P |
| وصف الملف: | application/pdf |
| تدمد: | 0002-9297 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b088a403539b4866dcf8e41df96427bTest https://pubmed.ncbi.nlm.nih.gov/16380907Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....9b088a403539b4866dcf8e41df96427b |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 00029297 |
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