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Expressivity of hearing loss in cases with Usher syndrome type IIA.

https://arctichealth.org/en/permalink/ahliterature106491
Source
Int J Audiol. 2013 Dec;52(12):832-7
Publication Type
Article
Date
Dec-2013
Author
André M Sadeghi
Edward S Cohn
William J Kimberling
Glenn Halvarsson
Claes Möller
Author Affiliation
* Department of Audiology, The Sahlgrenska Academy, Institute of Neuroscience and Physiology , Göteborg , Sweden.
Source
Int J Audiol. 2013 Dec;52(12):832-7
Date
Dec-2013
Language
English
Publication Type
Article
Keywords
Acoustic Impedance Tests
Adolescent
Adult
Aged
Audiometry, Pure-Tone
Auditory Threshold
Child
DNA Mutational Analysis
Extracellular Matrix Proteins - genetics
Female
Genetic Association Studies
Genetic Predisposition to Disease
Hearing - genetics
Humans
Male
Middle Aged
Mutation
Nebraska
Pedigree
Phenotype
Risk factors
Severity of Illness Index
Sweden
Usher Syndromes - diagnosis - genetics - physiopathology
Abstract
The purpose of this study was to compare the genotype/phenotype relationship between siblings with identical USH2A pathologic mutations and the consequent audiologic phenotypes, in particular degree of hearing loss (HL). Decade audiograms were also compared among two groups of affected subjects with different mutations of USH2A.
DNA samples from patients with Usher syndrome type II were analysed. The audiological features of patients and affected siblings with USH2A mutations were also examined to identify genotype-phenotype correlations.
Genetic and audiometric examinations were performed in 18 subjects from nine families with Usher syndrome type IIA.
Three different USH2A mutations were identified in the affected subjects. Both similarities and differences of the auditory phenotype were seen in families with several affected siblings. A variable degree of hearing loss, ranging from mild to profound, was observed among affected subjects. No significant differences in hearing thresholds were found the group of affected subjects with different pathological mutations.
Our results indicate that mutations in the USH2A gene and the resulting phenotype are probably modulated by other variables, such as modifying genes, epigenetics or environmental factors which may be of importance for better understanding the etiology of Usher syndrome.
PubMed ID
24160897 View in PubMed
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GJB2 (Connexin-26) mutations are not frequent among hearing impaired patients in east Greenland.

https://arctichealth.org/en/permalink/ahliterature126666
Source
Int J Audiol. 2012 Jun;51(6):433-6
Publication Type
Article
Date
Jun-2012
Author
Preben Homøe
Anders Koch
Nanna Dahl Rendtorff
Marianne Lodahl
Ture Andersen
Stig Andersen
Hans Eiberg
Inge-Merete Nielsen
Lisbeth Tranebjærg
Author Affiliation
Department of Otolaryngology, Head & Neck Surgery, Rigshospitalet, Copenhagen, Denmark. phom@rh.regionh.dk
Source
Int J Audiol. 2012 Jun;51(6):433-6
Date
Jun-2012
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Aged
Audiometry, Pure-Tone
Bone Conduction - genetics
Case-Control Studies
Child
Child, Preschool
Connexins - genetics
Cross-Sectional Studies
DNA Mutational Analysis
Female
Gene Frequency
Genetic Predisposition to Disease
Greenland - epidemiology
Hearing - genetics
Hearing Loss, Mixed Conductive-Sensorineural - ethnology - genetics - physiopathology
Hearing Loss, Sensorineural - ethnology - genetics - physiopathology
Heterozygote
Homozygote
Humans
Inuits - genetics
Male
Middle Aged
Mutation
Persons With Hearing Impairments - statistics & numerical data
Phenotype
Prevalence
Risk factors
Young Adult
Abstract
Investigate genetic causes of HI among the Inuit populations in the Arctic with a high prevalence of hearing impairment (HI).
A cross-sectional survey with population-based controls.
Forty-five patients, with sensorineural or mixed HI and an available blood sample for GJB2 sequencing from DNA, were selected from 166 east Greenlanders by specialist audiology examination, including pure-tone air and bone conduction audiometry from 125 Hz to 8000 Hz. Controls were 108 east- and 109 west-Greenlanders.
Forty-five patients with HI were included, 24 males and 21 females. Median age was 35 years (range: 5-76). The c.35delG allele frequency was 3.3%. One patient, homozygous for the c.35delG GJB2 mutation, had bilateral congenital profound HI. Another with mixed HI was heterozygous for the same mutation. Three were heterozygous for the p.V27I variant and one was heterozygous for the p.V153I variant. The frequency of the c.35delG mutation in the controls varied between 0.5% in west Greenland to 2.3% in east Greenland.
The c.35delG GJB2 mutation occurs in Greenland with low frequency. We conclude the main causes behind the prevalence of HI in this population are chronic otitis media, noise traumas, and/or unidentified genetic causes.
PubMed ID
22369226 View in PubMed
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Hearing as a predictor of falls and postural balance in older female twins.

https://arctichealth.org/en/permalink/ahliterature152870
Source
J Gerontol A Biol Sci Med Sci. 2009 Feb;64(2):312-7
Publication Type
Article
Date
Feb-2009
Author
Anne Viljanen
Jaakko Kaprio
Ilmari Pyykkö
Martti Sorri
Satu Pajala
Markku Kauppinen
Markku Koskenvuo
Taina Rantanen
Author Affiliation
Department of Health Sciences, Finnish Centre for Interdisciplinary Gerontology, Finland. anne.viljanen@sport.jyu.fi
Source
J Gerontol A Biol Sci Med Sci. 2009 Feb;64(2):312-7
Date
Feb-2009
Language
English
Publication Type
Article
Keywords
Accidental Falls - statistics & numerical data
Aged
Aging - genetics - physiology
Audiometry
Confidence Intervals
Female
Finland
Hearing - genetics
Hearing Loss - diagnosis - epidemiology - genetics
Humans
Incidence
Middle Aged
Postural Balance - physiology
Predictive value of tests
Risk assessment
Sampling Studies
Sensitivity and specificity
Twins
Twins, Dizygotic
Twins, Monozygotic
Abstract
The purpose of the present study was to examine, first, whether hearing acuity predicts falls and whether the potential association is explained by postural balance and, second, to examine whether shared genetic or environmental effects underlie these associations.
Hearing was measured using a clinical audiometer as a part of the Finnish Twin Study on Aging in 103 monozygotic and 114 dizygotic female twin pairs aged 63-76 years. Postural balance was indicated as a center of pressure (COP) movement in semi-tandem stance, and participants filled in a fall-calendar daily for an average of 345 days after the baseline.
Mean hearing acuity (better ear hearing threshold level at 0.5-4 kHz) was 21 dB (standard deviation [SD] 12). Means of the COP velocity moment for the best to the poorest hearing quartiles increased linearly from 40.7 mm(2)/s (SD 24.4) to 52.8 mm(2)/s (SD 32.0) (p value for the trend = .003). Altogether 199 participants reported 437 falls. Age-adjusted incidence rate ratios (IRRs) for falls, with the best hearing quartile as a reference, were 1.2 (95% confidence interval [CI] = 0.4-3.8) in the second, 4.1 (95% CI = 1.1-15.6) in the third, and 3.4 (95% CI = 1.0-11.4) in the poorest hearing quartiles. Adjustment for COP velocity moment decreased IRRs markedly. Twin analyses showed that the association between hearing acuity and postural balance was not explained by genetic factors in common for these traits.
People with poor hearing acuity have a higher risk for falls, which is partially explained by their poorer postural control. Auditory information about environment may be important for safe mobility.
Notes
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PubMed ID
19182227 View in PubMed
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A nonsynonymous mutation in the WFS1 gene in a Finnish family with age-related hearing impairment.

https://arctichealth.org/en/permalink/ahliterature293054
Source
Hear Res. 2017 Nov; 355:97-101
Publication Type
Journal Article
Date
Nov-2017
Author
Laura Kytövuori
Samuli Hannula
Elina Mäki-Torkko
Martti Sorri
Kari Majamaa
Author Affiliation
Medical Research Center Oulu, Oulu University Hospital and University of Oulu, Oulu, Finland; Research Unit of Clinical Neuroscience, University of Oulu, P.O. Box 5000, FI-90014 Oulu, Finland; Department of Neurology, Oulu University Hospital, P.O. Box 20, FI-90029 Oulu, Finland. Electronic address: laura.kytovuori@oulu.fi.
Source
Hear Res. 2017 Nov; 355:97-101
Date
Nov-2017
Language
English
Publication Type
Journal Article
Keywords
Acoustic Stimulation
Adolescent
Adult
Age Factors
Age of Onset
Aged
Aged, 80 and over
Aging - genetics
Audiometry, Pure-Tone
DNA Mutational Analysis
Female
Finland
Genetic Predisposition to Disease
Hearing - genetics
Hearing Loss, Sensorineural - diagnosis - genetics - physiopathology
Heterozygote
Humans
Male
Membrane Proteins - genetics
Middle Aged
Mutation
Pedigree
Phenotype
Presbycusis - diagnosis - genetics - physiopathology
Young Adult
Abstract
Wolfram syndrome (WS) is caused by recessive mutations in the Wolfram syndrome 1 (WFS1) gene. Sensorineural hearing impairment (HI) is a frequent feature in WS and, furthermore, certain mutations in WFS1 cause nonsyndromic dominantly inherited low-frequency sensorineural HI. These two phenotypes are clinically distinct indicating that WFS1 is a reasonable candidate for genetic studies in patients with other phenotypes of HI. Here we have investigated, whether the variation in WFS1 has a pathogenic role in age-related hearing impairment (ARHI). WFS1 gene was investigated in a population sample of 518 Finnish adults born in 1938-1949 and representing variable hearing phenotypes. Identified variants were evaluated with respect to pathogenic potential. A rare mutation predicted to be pathogenic was found in a family with many members with impaired hearing. Twenty members were recruited to a segregation study and a detailed clinical examination. Heterozygous p.Tyr528His variant segregated completely with late-onset HI in which hearing deteriorated first at high frequencies and progressed to mid and low frequencies later in life. We report the first mutation in the WFS1 gene causing late-onset HI with audiogram configurations typical for ARHI. Monogenic forms of ARHI are rare and our results add WFS1 to the short list of such genes.
PubMed ID
28974383 View in PubMed
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Standard and multifrequency tympanometric norms for Caucasian and Chinese young adults.

https://arctichealth.org/en/permalink/ahliterature170956
Source
Ear Hear. 2006 Feb;27(1):75-90
Publication Type
Article
Date
Feb-2006
Author
Navid Shahnaz
Dreena Davies
Author Affiliation
School of Audiology and Speech Sciences, University of British Columbia, Vancouver, British Columbia, Canada. nshahnaz@audiospeech.ubc.ca
Source
Ear Hear. 2006 Feb;27(1):75-90
Date
Feb-2006
Language
English
Publication Type
Article
Keywords
Acoustic Impedance Tests - instrumentation - standards
Adolescent
Adult
Analysis of Variance
Asian Continental Ancestry Group
Body Size - genetics - physiology
British Columbia
Ear, Middle - anatomy & histology - physiology
European Continental Ancestry Group
Female
Hearing - genetics
Humans
Male
ROC Curve
Reference Values
Sex Factors
Abstract
This study examined differences between a group of normal-hearing Caucasian and Chinese young adults on six tympanometric parameters. The goal of this study was to determine if the Chinese group had different low and multifrequency tympanometry results than the Caucasian group.
There were a total of 159 subjects (303 ears) between the ages of 18 and 34 years, with 76 subjects in the Caucasian group and 83 subjects in the Chinese group. Tympanometric data were gathered on a clinical immittance machine, the Virtual 310 equipped with a high frequency option. Four of the parameters-static admittance (SA), tympanometric width (TW), tympanometric peak pressure (TPP), and ear-canal volume (ECV)-were measured automatically at a standard 226 Hz frequency. The remaining two parameters-resonant frequency (RF) and SA up to 1,200 Hz-were measured by multifrequency, multicomponent tympanometry, using a mathematical approach.
The Chinese group had significantly lower SA, wider TW, more positive TPP, and lower ECV than their Caucasian counterparts. The parameter of SA up to 1,200 Hz showed a significant group effect (Caucasian versus Chinese) until 900 Hz in the male group and up to 1,120 Hz in the female group. The Chinese group had significantly higher RF than the Caucasian group. Once the effect of body size was compensated by adjusting for the ear canal and the middle ear volumes, the differences observed between the Caucasian and the Chinese groups were no longer significant for tympanometric parameters obtained at standard probe tone frequency of 226 Hz; however, the effect was still significant for SA obtained at higher probe tone frequencies (560, 630, 710, 800, and 900 Hz) and for RF. Applying the Caucasian norms to a group of mainly Caucasian adults with surgically confirmed otosclerosis resulted in improved overall test performance when compared with the combined Caucasian and Chinese norms and the Chinese only norms.
It seems that the body size plays a crucial factor in the observed differences between the Caucasian group and Chinese groups at a standard probe tone frequency of 226 Hz; however, other mechano-acoustical properties of the middle ear may contribute to these differences at higher probe tone frequencies. Findings of this study suggest that further research is needed to investigate the effects of body size on immittance measures with other ethnic groups. In the meantime, overall test performance may be improved by using a more homogenous norm when testing the Caucasian or Chinese individuals.
PubMed ID
16446566 View in PubMed
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