title: Investigation of LRTOMT gene (locus DFNB63) mutations in Iranian patients with autosomal recessive non-syndromic hearing loss.
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 PCR-SSCP/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.
authors.affiliation: Department of Genetic, Faculty of Science, ShahidChamran University of Ahwaz, Ahwaz, Iran.
authors.forename: Seyyed Hossein
authors.initials: SH
authors.lastname: Taghizadeh
authors.affiliation: Department of Genetic, Faculty of Science, ShahidChamran University of Ahwaz, Ahwaz, Iran.
authors.forename: Seyyed Reza
authors.initials: SR
authors.lastname: Kazeminezhad
authors.affiliation: Cellular and Molecular Biology Research Center (CMBRC), Babol University of Medical Sciences, Babol, Iran.
authors.forename: Seyyed Ali Asghar
authors.initials: SA
authors.lastname: Sefidgar
authors.affiliation: Department of Biochemistry and Genetics, Falavarjan Branch, Islamic Azad University, Isfahan, Iran.
authors.forename: Nasrin
authors.initials: N
authors.lastname: Yazdanpanahi
authors.affiliation: Department of Genetics, Faculty of Medicine, JundiShapur University of Medical Sciences, Ahwaz, Iran.
authors.forename: Mohammad Amin
authors.initials: MA
authors.lastname: Tabatabaeifar
authors.affiliation: Department of Basic Sciences, Faculty of Veterinary Medicine, Shahrekord University, Shahrekord, Iran.
authors.forename: Ahmad
authors.initials: A
authors.lastname: Yousefi
authors.affiliation: Department of Genetics, Faculty of Science, Shahrekord University, Shahrekord, Iran.
authors.forename: Seyyed Mohammad
authors.initials: SM
authors.lastname: Lesani
authors.affiliation: Cellular and Molecular Research Center, Shahrekord University of Medical Sciences, Shahrekord, Iran.
authors.forename: Marziyeh
authors.initials: M
authors.lastname: Abolhasani
authors.affiliation: Cellular and Molecular Research Center, Shahrekord University of Medical Sciences, Shahrekord, Iran.
authors.forename: Morteza
authors.initials: M
authors.lastname: Hashemzadeh Chaleshtori
keywords: DFNB63; Iran; LRTOMT gene; Non - syndromic sporadic hearing loss; PCR - SSCP; heteroduplex