Please use this identifier to cite or link to this item: http://hdl.handle.net/20.500.12188/15320
Title: MUTATION ANALYSIS OF THE COMMON DEAFNESS GENES IN PATIENTS WITH NONSYNDROMIC HEARING LOSS IN REPUBLIC OF MACEDONIA
Other Titles: МОЛЕКУЛАРНА КАРАКТЕРИЗАЦИЈА НА НАСЛЕДНАТА ГЛУВОСТ КАЈ ПАЦИЕНТИ СО НЕСИНДРОМСКО ОШТЕТУВАЊЕ НА СЛУХОТ ВО РЕПУБЛИКА МАКЕДОНИЈА
Authors: Shukarova Stefanovska Emilija
Bozhinovski, GJorgji 
Momirovska Ana
Davcheva Chakar, Marina 
Shukarova Angelovska, Elena 
Plasheska-Karanfilska Dijana
Keywords: Nonsyndromic hearing loss
GJB2 gene
pathogenic variants
Issue Date: 2017
Publisher: Македонско лекарско друштво = Macedonian medical association
Journal: Македонски медицински преглед = Macedonian medical review
Abstract: Hearing impairment is the most common sensory disorder, which occurs in 1 of 1000 newborns. It is caused by heterogeneous conditions with more than a half due to genetic etiology. Although hundreds of genes are implicated in hearing process and have been found to be associated with nonsyndromic hearing loss, pathogenic variants in GJB2 gene have been con-sidered as the main cause of deafness among nonsyn-dromic hearing loss (NSHL) population worldwide. Pathogenic variants in MT-RNR1 or mtDNA12SrRNA gene were also implicated predominantly in postlin-gual progresive deafness. The aim of this study was to analyze the implication of GJB2 and MT-RNR1 genes in the molecular etiology of deafness among 130 NSHL patients in the Republic of Macedonia. The presence of the del (GJB6-D13S1830) was also analysed. We performed SSCP and/or sequence analysis of GJB2 and identified sequence variants in 62 out of 130 patients (47.7%); (51 homozygous or compound heterozygous and 11 with only one variant allele). We found 8 different allelic variants, the most prevalent being c.35delG (65.49%), and p.W24*(23.01%), followed by other less frequent alleles (p.V27I, p.V37I, p. P175T and cd. delE120 or delGAG at 360). In addition, two polymorphic substi-tutions in the GJB2 gene with no clinical significance (p.V153I and p.R127H) were detected. No del(GJB6-D13S1830) was found. SNaPshot analysis was used to screen for the five most frequent allelic variants in the MT-RNR1 gene. Two MT-RNR1 mutations (A827G and T961G) were detected in three patients where only one GJB2 pathogenic variant was found. A new MT-RNR1 gene variant G1303A was also detected. In conclusion, MT-RNR1 mutations were not a sig-nificant contributor to the etiology of deafness in Ma-cedonia, although could be considered as a modifier gene affecting the expression of deafness in patients carrying one GJB2 variant. On the other hand, the high percenttage of GJB2 pathogenic variants identified among NSHL cases indicates the necessity of molecular newborn screening for the two most common GJB2 variants (c.35delG and p.W24*) in the Republic of Macedonia.
URI: http://hdl.handle.net/20.500.12188/15320
DOI: 10.1515/mmr-2017-0005
Appears in Collections:Faculty of Medicine: Journal Articles

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