E-ISSN 2602-4837
The Turkish Journal of Ear Nose and Throat İdyopatik ani işitme kayıplı olguların genetik yapılarının analizi [Tr-ENT]
Tr-ENT. 2010; 20(5): 219-225

İdyopatik ani işitme kayıplı olguların genetik yapılarının analizi

Adem Bora1, Emine Elif Altuntaş, Öztürk Özdemir, İsmail Önder Uysal, Suphi Müderris

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Anahtar Kelimeler: Konneksin 26; konneksin 30; konneksin 31; wolframin;ani işitme kaybı.

Genetic constitution analysis of idiopathic sudden hearing loss

Adem Bora1, Emine Elif Altuntaş, Öztürk Özdemir, İsmail Önder Uysal, Suphi Müderris

Objectives: The purpose of this research is to understand
the etiology of sudden hearing loss due to genetic factors
in Turkish people. Determination of these genetic factors
and better understanding of molecular pathogenesis may
guide more realistic planning and treatment recommendations.
Patients and Methods: Forty patients (Group 1; 19 males,
21 females; mean age 37.9±15.6 years; range 9 to 76 years)
who presented with sudden hearing loss to the Ear, Nose
and Throat Clinic of Medical Faculty Hospital of Cumhuriyet
University between January 2008 and June 2009, and were
diagnosed with sudden hearing loss through history, physical
examination and review of audiometric findings, and 20
healthy volunteers (Group 2; 14 males, 6 females; mean age
31.7±4.4 years; range 24 to 43 years) for the control group
were included in this study. All Patients were evaluated by
the genetic clinic for the GJB2, GJB3, GJB6 and WFS1
gene using multiplex ligation-dependent probe amplification
(MLPA) method mutation analysis.
Results: No difference was found in the peripheral blood
sample analyses of the two groups at WFS1 exon 8 and
connexin 26, 30 and 31 gene zones using the MLPA
method with respect to heterozygous mutation (p=0.291,
p>0.05). In four patients in group 1 heterozygous mutation
was detected at the target gene zone. Heterozygous mutation
was in the WFS1 exon 8 zone in two patients; and in
the WFS1 exon 1 zone in other two patients.
Conclusion: Sudden hearing loss studies in the future
should include connexin 26, connexin 30 and other gene
mutations that may affect the function of the gap-junction
located in the region of the cochlea stria vascularis (stV),
basal membrane (BM), spiral limbus (Li) and spiral ligament
(SL). These studies should be performed on larger series,
and should include family members of patients with sudden
hearing loss.

Keywords: Connexin 26; connexin 30; connexin 31; wolframin; suddenhearing loss.

Adem Bora, Emine Elif Altuntaş, Öztürk Özdemir, İsmail Önder Uysal, Suphi Müderris. Genetic constitution analysis of idiopathic sudden hearing loss. Tr-ENT. 2010; 20(5): 219-225

Sorumlu Yazar: Adem Bora
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