Genotype-phenotype correlation for DFNA22: characterization of non-syndromic, autosomal dominant, progressive sensorineural hearing loss due to MYO6 mutations
| Autor: | Paul Van de Heyning, Joost van Dinther, Guy Van Camp, Andrzej Zarowski, Vedat Topsakal, Nele Hilgert, Nanna Dahl Rendtorff, Lisbeth Tranebjærg, Erwin Offeciers |
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| Přispěvatelé: | Specialities, Internal Medicine Specializations, Cardio-vascular diseases |
| Jazyk: | angličtina |
| Rok vydání: | 2010 |
| Předmět: |
Male
Physiology DNA Mutational Analysis Genetic Carrier Screening Audiology Deafness Genes Dominant/genetics Correlation surgery Belgium Genotype Young adult Child Genes Dominant Aged 80 and over Middle Aged Phenotype Myosin Type IV/genetics Sensory Systems Pedigree Deafness/genetics Sensorineural hearing loss Female medicine.symptom Hearing Loss Sensorineural/genetics Adult medicine.medical_specialty Adolescent Hearing loss Hearing Loss Sensorineural Haplotypes/genetics Speech and Hearing Young Adult medicine otorhinolaryngologic diseases Humans Aged Chromosome Aberrations business.industry Haplotype Infant Auditory Threshold medicine.disease Otorhinolaryngology Haplotypes Myosin Type IV Human medicine business |
| Zdroj: | Audiology and neuro-otology |
| ISSN: | 1420-3030 |
| Popis: | Universiteits-Biblioteek Your Subscriptions Logo Vol. 15, No. 4, 2010 Free Abstract Article (Fulltext) Article (PDF 406 KB) Original Paper Genotype-Phenotype Correlation for DFNA22: Characterization of Non-Syndromic, Autosomal Dominant, Progressive Sensorineural Hearing Loss due to MYO6 Mutations Vedat Topsakala, c, Nele Hilgertb, Joost van Dintherd, Lisbeth Tranebjærge, f, Nanna D. Rendtorffe, Andrzej Zarowskid, Erwin Offeciersd, Guy Van Campb, Paul van de Heyningc aDepartment of Otorhinolaryngology, Head and Neck Surgery, University Medical Center Utrecht, Utrecht, The Netherlands; bDepartment of Medical Genetics, University of Antwerp, and cDepartment of Otorhinolaryngology, Antwerp University Hospital, University of Antwerp, Antwerp, and dUniversity ENT Department, Sint-Augustinus Hospital, Wilrijk, Antwerp, Belgium; eWilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, Panum Institute, University of Copenhagen, and fDepartment of Audiology, Bispebjerg Hospital, Copenhagen, Denmark Address of Corresponding Author Audiol Neurotol 2010;15:211-220 (DOI: 10.1159/000255339) goto top of page Key Words * Age-related typical audiograms * DFNA22 * Myosin VI * Autosomal dominant sensorineural hearing loss * Hereditary hearing impairment goto top of page Abstract Clinical and audiological examination was done in 2 Belgian families with autosomal dominant sensorineural hearing loss (SNHL) linked to DFNA22. Nineteen subjects in family 1 had mild to moderate SNHL starting in the third decade. The hearing loss was characterized by a flat audiogram affecting all tested frequencies with statistically significant progression. In family 2 eleven subjects were affected with mild to moderate SNHL starting in the second decade. Most of them showed a flat audiogram, but some had mid-frequency hearing loss. Significant progression of thresholds was present at 4 and 8 kHz. For all hitherto known DFNA22 families the audiological and clinical characteristics were correlated with the molecular data. This study describes the phenotype of 2 Belgian families with SNHL linked to DFNA22, both with a pathogenic change in the deafness gene MYO6. The phenotypes of all hitherto reported DFNA22 families with mutations in the MYO6 gene have been studied and compared. It seems that genetic defects that spare the motor domain of the myosin VI protein have a milder phenotype. |
| Databáze: | OpenAIRE |
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