GJB2 (Connexin-26) mutations are not frequent among hearing impaired patients in east Greenland

Preben Homøe; Anders Koch; Nanna Dahl Rendtorff; Marianne Lodahl; Ture Andersen; Stig Andersen; Hans Eiberg; Inge-Merete Nielsen; Lisbeth Tranebjærg

doi:10.3109/14992027.2012.660575

GJB2 (Connexin-26) mutations are not frequent among hearing impaired patients in east Greenland

Preben Homøe, Anders Koch, Nanna Dahl Rendtorff, Marianne Lodahl, Ture Andersen, Stig Andersen, Hans Eiberg, Inge-Merete Nielsen, Lisbeth Tranebjærg

8 Citationer (Scopus)

Abstract

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: 576). 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.

Originalsprog	Engelsk
Tidsskrift	International Journal of Audiology
Vol/bind	51
Udgave nummer	6
Sider (fra-til)	433-6
Antal sider	4
ISSN	1499-2027
DOI	https://doi.org/10.3109/14992027.2012.660575
Status	Udgivet - jun. 2012

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10.3109/14992027.2012.660575

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title = "GJB2 (Connexin-26) mutations are not frequent among hearing impaired patients in east Greenland",

abstract = "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: 576). 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.",

author = "Preben Hom{\o}e and Anders Koch and Rendtorff, {Nanna Dahl} and Marianne Lodahl and Ture Andersen and Stig Andersen and Hans Eiberg and Inge-Merete Nielsen and Lisbeth Tranebj{\ae}rg",

year = "2012",

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doi = "10.3109/14992027.2012.660575",

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T1 - GJB2 (Connexin-26) mutations are not frequent among hearing impaired patients in east Greenland

AU - Homøe, Preben

AU - Koch, Anders

AU - Rendtorff, Nanna Dahl

AU - Lodahl, Marianne

AU - Andersen, Ture

AU - Andersen, Stig

AU - Eiberg, Hans

AU - Nielsen, Inge-Merete

AU - Tranebjærg, Lisbeth

PY - 2012/6

Y1 - 2012/6

N2 - 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: 576). 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.

AB - 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: 576). 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.

U2 - 10.3109/14992027.2012.660575

DO - 10.3109/14992027.2012.660575

M3 - Journal article

C2 - 22369226

SN - 1499-2027

VL - 51

SP - 433

EP - 436

JO - International Journal of Audiology

JF - International Journal of Audiology

IS - 6

ER -

GJB2 (Connexin-26) mutations are not frequent among hearing impaired patients in east Greenland

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