Journal of Isfahan Medical School

Journal of Isfahan Medical School

Genetic Linkage Analysis of the DFNB63 Locus in Families with Autosomal Recessive Nonsyndromic Hearing Loss from Hamadan and Kohgiluyeh and Boyer-Ahmad Provinces, Iran

Document Type : Original Article (s)

Authors
Parya Alipour 1
Mohammad Amin Tabatabaiefar 2
Somayeh Reiisi 3
Najmeh Fattahi 1
Azam Pourahmadian 1
Mortaza Hashemzadeh-Chaleshtori 4
1 Cellular and Molecular Research Center, Shahrekord University of Medical Sciences, Shahrekord, Iran
2 Assistant Professor, Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran
3 Assistant Professor, Department of Genetics, School of Science, Shahrekord University, Shahrekord, Iran
4 Professor, Cellular and Molecular Research Center AND Department of Medical Genetics, School of Medicine, Shahrekord University of Medical Sciences, Shahrekord, Iran
Abstract
Background: Hearing loss is a sensorineural impairment and is one of the most widespread congenital impairments with a prevalence of one in thousand among children. Studies have shown that 50 percent of congenital hearing loss have genetic causes and the remaining 50 percent are due to environment and unknown reasons; in addition, it is noted that this impairment is very heterogeneous. Almost 70 percent of cases are nonsyndromic with hearing loss presenting as the only impairment. About 80 percent of this type of hearing loss is inherited in recessive manner (ARNSHL). In this study, we determined the role of DFNB63 locus in a series of families in two western provinces of Iran.Methods: In this descriptive-laboratory study, to determine the prevalence of DFNB63 mutations in western provinces of Iran, we studied 150 individuals from 30 families in Hamadan and Kohgiluyeh and Boyer-Ahmad provinces. The selected families in this study were consanguineous, had at least 2 patients, and were negative for GJB2 mutations. Linkage analysis was performed using six appropriate short tandem repeats (STR) markers.Findings: With linkage analysis of selected families, no family was shown to be linked to the DFNB63 locus. It was shown that the LRTOMT mutations played no role in causing hearing loss in the studied families.Conclusion: The present study suggests that LRTOMT mutations may not be clinically important in causing autosomal recessive nonsyndromic hearing loss in the investigated provinces. 
Keywords
DFNB63
LRTOMT gene
Autosomal recessive nonsyndromic hearing loss
Genetic linkage analysis
Iran
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Journal of Isfahan Medical School
Volume 33, Issue 346 - Serial Number 346
July and August 2015
Pages 1308-1317

  • Receive Date 29 May 2015
  • Accept Date 06 April 2022