GENETICS OF NON SYNDROMIC HEARING LOSS
IN THE REPUBLIC OF MACEDONIA
Sukarova Stefanovska E1, Cakar M2, Filipce I2, Plaseska Karanfilska D1
*Corresponding Author: Emilija Sukarova Stefanovska, Ph.D., Research Centre for Genetic Engineering
and Biotechnology “Georgi D. Efremov”, Macedonian Academy of Sciences and Arts, Av. Krste Misirkov
2, POB 428, 1000 Skopje, Republic of Macedonia; Tel.: +389(0)2-3235-410; Fax: +389-(0)2-3115-434;
E-mail: emilija@manu.edu.mk
page: 57
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Abstract
Hearing impairment is the most common sensory
deficit in humans affecting 1 in 1000 newborns.
When present in an infant, deafness may have dramatic
effects on language acquisition, seriously
compromising the quality of their life. Deafness is
influenced by both genetic and environmental factors,
with inherited causes as the most prominent
etiological factor in deafness in developed countries.
The genetic basis of hearing loss is complex
with numerous loci and genes underlying hereditary
sensoryneural non syndromic hearing loss (NSHL)
in humans. Despite the wide functional heterogeneity
of the genes, mutations in the GJB2 gene are
found to be the most common cause of sporadic
and recessive NSHL in many populations worldwide.
Molecular characterization of deafness in
the Republic of Macedonia was performed in 130
NSHL profoundly deaf children from different ethnic
origins. Molecular studies included direct sequencing
of the GJB2 gene and specific polymerase
chain reaction (PCR) analyses for the del(GJB6-
D13S1830) mutation. Five common mitochondrial
DNA (mtDNA) mutations [A1555G, 961delT+ C(n),
T1095C, C1494T and A827G] were also analyzed
using the SNaPShot method. In preliminary studies,
GJB2 gene mutations were found in 36.4% of
analyzed patients, with predominance of 35delG
in Macedonian and Albanian patients and W24X
in Gypsy patients, respectively. No del(GJB6-
D13S1830) mutation was found. None of the analyzed
deafness-associated mutations in mtDNA
were identified in the studied patients.
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