Variable degrees of hearing impairment in a Dutch DFNX4 (DFN6) family
Autor: | Henricus P. M. Kunst, Margit Schraders, N.J.D. Weegerink, Ronald J.E. Pennings, Hubertus P. H. Kremer, Patrick L. M. Huygen |
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Rok vydání: | 2011 |
Předmět: |
Male
Heredity Muscle Proteins Presbycusis Otoscopy Audiology Severity of Illness Index Linkage Disequilibrium Age of Onset Young adult Child Netherlands medicine.diagnostic_test Reflex Vestibulo-Ocular Middle Aged Sensory Systems Phenotype Child Preschool Auditory Perception Disease Progression Speech Perception Audiometry Pure-Tone Female medicine.symptom Adult medicine.medical_specialty Adolescent Hearing loss Hearing Loss Sensorineural Genomic disorders and inherited multi-system disorders [IGMD 3] Young Adult Sex Factors Severity of illness otorhinolaryngologic diseases medicine Humans Genetic Predisposition to Disease Medical history business.industry Genetic heterogeneity Auditory Threshold medicine.disease Genetics and epigenetic pathways of disease Neuroinformatics [NCMLS 6] Persons With Hearing Impairments Acoustic Stimulation Nonlinear Dynamics Mutation Genetics and epigenetic pathways of disease Functional Neurogenomics [NCMLS 6] Linear Models Audiometry Age of onset Audiometry Speech business |
Zdroj: | Hearing Research, 282, pp. 167-77 Hearing Research, 282, 167-77 |
ISSN: | 0378-5955 |
Popis: | Objective Investigation of the audiometric characteristics of a large Dutch DFNX4 family with a p.Glu72X mutation in the SMPX gene. Patients and methods Sixty family members participated in this study and examination consisted of medical history, otoscopy, pure tone and speech audiometry. Linkage and mutation analysis revealed a pathogenic mutation in the SMPX gene. Results All 25 mutation carriers exhibited hearing impairment, except one woman aged 25 years. The men ( n = 10) showed more severe hearing impairment than the women ( n = 14) and already at a younger age. The age of onset according to history was 2–10 years (mean: 3.3 years) in men and 3–48 years (mean: 26.4 years) in women. In the men, severe threshold deterioration mainly occurred during the first two decades of life, especially at the higher frequencies. The women showed milder threshold deterioration and more pronounced across-subjects and individual inter-aural variation, especially at 2–8 kHz. Longitudinal linear regression analysis demonstrated significant progression of at least two frequencies in five individuals (3 men and 2 women). The speech recognition scores of the mutation carriers with hearing impairment were decreased at relatively young ages compared to a reference group of patients with only presbycusis, especially in men. However, all these patients tended to have better speech recognition scores than the presbycusis patients at matching PTA 1,2,4 kHz levels. Conclusion This study demonstrates the phenotypic heterogeneity in this large family with an X-linked pattern of inherited sensorineural hearing impairment. The men showed more severe hearing impairment at a younger age with more pronounced progression during the first two decades of life, while women demonstrated less severe hearing impairment with more gradual progression and a wider variation in age of onset, degree of hearing impairment and inter-aural asymmetry in thresholds. |
Databáze: | OpenAIRE |
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