Screening LRTOMT Gene (DFNB63 locus) in Patients with Recessive Nonsyndromic Hearing Loss in Hormozgan Province, Iran

Document Type : Original Article (s)

Authors

1 Department of Biotechnology, Cellular and Molecular Research Center, Shahrekord University of Medical Sciences, Shahrekord, Iran

2 PhD Student, Department of Genetics, National Institute for Genetic Engineering and Biotechnology, Tehran, Iran

3 MSc Student, Department of Genetics, Cellular and Molecular Research Center, Shahrekord University of Medical Sciences, Shahrekord, Iran

4 Professor, Cellular and Molecular Research Center, Shahrekord University of Medical Sciences, Shahrekord, Iran

Abstract

Background: Congenital hearing loss is the most common sensory disorder is modern societies. Two modes of syndromic and nonsyndromic genetic hearing loss can be seen. Autosomal recessive non-syndromic inheritance hearing loss (ARNSHL) is the most common form of inheritance hearing loss. So, far mapping it, 95 loci of the 41 regions of deafness genes have been identified. Despite numerous studies in this field, for DFNB63 (Leucine rich transmembrane and O-methyltransferase or LRTOMT gene), few studies have been conducted. Thus, the locus mutations can help us to better understand the genes involved in hearing loss.Methods: 90 cases of hearing loss in Hormozgan province, Iran, were studied. DNA extracted via phenol-chloroform method. Polymerase chian reaction (PCR) was performed. Then, the product was used to perform polymerase chain reaction-single-strand conformation polymorphism (PCR-SSCP) and polymerase chain reaction-heteroduplex analysis (PCR-HA) methods. Samples with different bands were sequenced to determine the nucleotide changes.Findings: In different exons, 8 samples (each in a specific exon) were sequenced to determine the type of changes that shift single-strand conformation polymorphism bands. No change was found in nucleotide sequencing of exons in any of the groups.Conclusion: The results showed no relationship between non-syndromic deafness and LRTOMT gene mutations. As this gene is discovered in recent years, there are few studies on it. So far, only 5 mutation of this gene have been identified in the world that can determine pale relationship of the gene and hearing loss.

Keywords

References

  1. Bonow RO, Carabello BA, Chatterjee K, de Leon ACJ, Faxon DP, Freed MD, et al. ACC/AHA 2006 guidelines for the management of patients with valvular heart disease: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (writing Committee to Revise the 1998 guidelines for the management of patients with valvular heart disease) developed in collaboration with the Society of Cardiovascular Anesthesiologists endorsed by the Society for Cardiovascular Angiography and Interventions and the Society of Thoracic Surgeons. J Am Coll Cardiol 2006; 48(3): e1-148.
  2. Hilgert N, Smith RJ, van Camp G. Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics? Mutat Res 2009; 681(2-3): 189-96.
  3. Kochhar A, Hildebrand MS, Smith RJ. Clinical aspects of hereditary hearing loss. Genet Med 2007; 9(7): 393-408.
  4. Tucci M, Stucci S, Strippoli S, Silvestris F. Cytokine overproduction, T-cell activation, and defective T-regulatory functions promote nephritis in systemic lupus erythematosus. J Biomed Biotechnol 2010; 2010: 457146.
  5. Sedighi Moghaddam B, Pazoki R. First internal evaluation of microbiology, parasitology and immunology department in Semnan University of Medical Sciences. Koomesh 2002; 3(3): 137-44. [In Persian].
  6. Rapley BI, Rowland RE, Page WH, Podd JV. Influence of extremely low frequency magnetic fields on chromosomes and the mitotic cycle in Vicia faba L., the broad bean. Bioelectromagnetics 1998; 19(3): 152-61.
  7. Kenneson A, van Naarden BK, Boyle C. GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review. Genet Med 2002; 4(4): 258-74.
  8. Tabatabaiefar M, Montazer Zohour M, Shariati L, Jabbari Chaleshtori, Ashrafi K, Gholami A, et al. Mutation analysis of GJB2 and GJB6 genes and the genetic linkage analysis of five common DFNB loci in the Iranian families with autosomal recessive non-syndromic hearing loss. J Sci IR Iran. 2010; 21(2): 105-12.
  9. Nataraj AJ, Olivos-Glander I, Kusukawa N, Highsmith WE, Jr. Single-strand conformation polymorphism and heteroduplex analysis for gel-based mutation detection. Electrophoresis 1999; 20(6): 1177-85.
  10. Rossetti S, Tomei MC, Nielsen PH, Tandoi V. "Microthrix parvicella", a filamentous bacterium causing bulking and foaming in activated sludge systems: a review of current knowledge. FEMS Microbiol Rev 2005; 29(1): 49-64.
  11. Ahmed ZM, Masmoudi S, Kalay E, Belyantseva IA, Mosrati MA, Collin RW, et al. Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans. Nat Genet 2008; 40(11): 1335-40.
  12. Du X, Schwander M, Moresco EM, Viviani P, Haller C, Hildebrand MS, et al. A catechol-O-methyltransferase that is essential for auditory function in mice and humans. Proc Natl Acad Sci U S A 2008; 105(38): 14609-14.
  13. Grimberg J, Nawoschik S, Belluscio L, McKee R, Turck A, Eisenberg A. A simple and efficient non-organic procedure for the isolation of genomic DNA from blood. Nucleic Acids Res 1989; 17(20): 8390.
Journal of Isfahan Medical School
Volume 32, Issue 298 - Serial Number 298
July and August 2014
Pages 1330-1337

Files

History

  • Receive Date: 10 March 2014
  • Revise Date: 26 May 2024
  • Accept Date: 06 April 2022

Share

How to cite

Statistics