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
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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