International journal of audiology · 2012
GJB2 (Connexin-26) mutations are not frequent among hearing impaired patients in east Greenland.
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Homøe Preben, Koch Anders, Rendtorff Nanna Dahl, Lodahl Marianne, Andersen Ture, Andersen Stig, Eiberg Hans, Nielsen Inge-Merete, Tranebjærg Lisbeth
Аннотация
OBJECTIVE: Investigate genetic causes of HI among the Inuit populations in the Arctic with a high prevalence of hearing impairment (HI).
DESIGN: A cross-sectional survey with population-based controls.
STUDY SAMPLE: 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.
RESULTS: 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.
CONCLUSION: 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.
DESIGN: A cross-sectional survey with population-based controls.
STUDY SAMPLE: 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.
RESULTS: 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.
CONCLUSION: 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.
Предметные рубрики MeSH
AdolescentAdultAgedAudiometry, Pure-ToneBone ConductionCase-Control StudiesChildChild, PreschoolConnexin 26ConnexinsCross-Sectional StudiesDNA Mutational AnalysisFemaleGene FrequencyGenetic Predisposition to DiseaseGreenlandHearingHearing Loss, Mixed Conductive-SensorineuralHearing Loss, SensorineuralHeterozygoteHomozygoteHumansInuitMaleMiddle AgedMutationPersons with Hearing DisabilitiesPhenotypePrevalenceRisk FactorsYoung Adult