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

Authors

  • Ahmad Yousefi Department of Basic Sciences, Faculty of Veterinary Medicine, Shahrekord University, Shahrekord, Iran.
  • Marziyeh Abolhasani Cellular and Molecular Research Center, Shahrekord University of Medical Sciences, Shahrekord, Iran.
  • Mohammad Amin Tabatabaeifar Department of Genetics, Faculty of Medicine, JundiShapur University of Medical Sciences, Ahwaz, Iran.
  • Morteza Hashemzadeh Chaleshtori Cellular and Molecular Research Center, Shahrekord University of Medical Sciences, Shahrekord, Iran.
  • Nasrin Yazdanpanahi Department of Biochemistry and Genetics, Falavarjan Branch, Islamic Azad University, Isfahan, Iran.
  • Seyyed Ali Asghar Sefidgar Cellular and Molecular Biology Research Center (CMBRC), Babol University of Medical Sciences, Babol, Iran.
  • Seyyed Mohammad Lesani Department of Genetics, Faculty of Science, Shahrekord University, Shahrekord, Iran.
  • Seyyed Reza Kazeminezhad Department of Genetic, Faculty of Science, ShahidChamran University of Ahwaz, Ahwaz, 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 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.

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Journal title

volume 2  issue None

pages  41- 45

publication date 2013-03

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