Investigation of LRTOMT gene (locus DFNB63) mutations in Iranian patients with autosomal recessive non-syndromic hearing loss

Document Type : Original Article

Authors
Seyyed Hossein Taghizadeh 1
Seyyed Reza Kazeminezhad 1
Seyyed Ali Asghar Sefidgar 2
Nasrin Yazdanpanahi 3
Mohammad Amin Tabatabaeifar 4
Ahmad Yousefi 5
Seyyed Mohammad Lesani 6
Marziyeh Abolhasani 7
Morteza Hashemzadeh Chaleshtori 7
1 Department of Genetic, Faculty of Science, ShahidChamran University of Ahwaz, Ahwaz, Iran
2 Cellular and Molecular Biology Research Center (CMBRC), Babol University of Medical Sciences, Babol, Iran
3 Department of Biochemistry and Genetics, Falavarjan Branch, Islamic Azad University, Isfahan, Iran
4 Department of Genetics, Faculty of Medicine, JundiShapur University of Medical Sciences, Ahwaz, Iran
5 Department of Basic Sciences, Faculty of Veterinary Medicine, Shahrekord University, Shahrekord, Iran
6 Department of Genetics, Faculty of Science, Shahrekord University, Shahrekord, Iran
7 Cellular and Molecular Research Center, Shahrekord University of Medical Sciences, Shahrekord, Iran
Abstract
Hearing loss (HL) is the most frequent sensory defect affecting 1 in 1000 neonates. This can occur due to genetic
or environmental causes or both. The genetic causes are very heterogenous and over 100 loci have been
identified to cause autosomal recessive non - syndromic hearing loss (ARNSHL). The aim of this study was to
determine the contribution of the LRTOMT gene mutations in causing ARNSHL. One hundred fifty seven pupils
affected with ARNSHL from Azarbaijan Sharghi, Kordestan, Gilan and Golestan provinces, north and west of
Iran, were ascertained. In this descriptive - laboratory study, the presence of LRTOMT mutations were initially
checked using PCR – Single - strand conformation polymorphism (SSCP) and heteroduplex analysis (HA)
strategy. Samples with shifted bands on the gel were confirmed by DNA sequencing method. The PCRSSCP/HA and the subsequent direct DNA sequencing showed no mutation in the population studied. We
conclude that LRTOMT mutations have no role in causing sporadic deafness in the studied population. Further
studies on other populations and samples could clarify the exact role of LRTOMT mutations.
Keywords
Non - syndromic sporadic hearing loss
DFNB63
LRTOMT gene
PCR - SSCP
heteroduplex
Iran