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Non-syndromic recessive hearing loss Linkaged TMPRSS3 gene in the Turkish population

Year 2005, Volume: 12 Issue: 3, 31 - 35, 09.04.2009

Abstract

SüleymanDemirel Üniversitesi
TIP FAKÜLTESİ DERGİSİ: 2005 Eylül; 12(3)



Non-syndromic recessive hearing loss Linkaged TMPRSS3 gene in the Turkish population



Nilufer Sahin-Calapoglu, Mustafa Calapoglu, Ahmet Karaguzel



Özet

Türk Populasyonundaki TMPRSS3 Genine Bağlı Non-Sendromik Resesif Işitme Kaybı

Canlı doğumlarda yaklaşık 1/1000 sıklıkla görülen konjenital sağırlıkların %50.sinin temelinde genetik nedenler yatmaktadır. Non-sendromik işitme kayıpları kalıtım kalıpları baz alınarak sınıflandırıldıklarında, vakaların %80.inin otozomal resesif kalıtım sergilediği gözlenmektedir. Bu çalışmada non-sendromik otozomal resesif, prelingual işitme kaybına sahip ve yüksek oranda (%77) akraba evliliğinin görüldüğü 26 Türk ailede TMPRSS3 geni ile bağlantının varlığı araştırıldı. Bağlantı ve lod-score analizlerinden elde edilen verilerle 26 aileden altısında (%23) TMPRSS3 genine potansiyel bağlantı saptandı. TMPRSS3 geninin Türk populasyonundaki non-sendromik otozomal resesif sağırlığın başlıca nedenlerinden olabileceği gösterildi. Bu çalışma ile Türk ailelerde TMPRSS3 genine bağlantı ilk kez rapor edilmektedir.



Anahtar kelimeler: Resesif işitme kaybı, TMPRSS3 geni



Abstract



Congenital deafness occurs in approximately 1 in 1000 live births and it is estimated that at least 50% of these cases are due to genetic cause. Non-syndromic deafness is classified according to its mode of inheritance and non-syndromic autosomal recessive deafness accounts for approximately 80% of congenital hereditary deafness case. In this study we present evidence for linkage to TMPRSS3 gene in 26 non-syndromic autosomal recessive prelingual hearing impaired Turkish families with high frequency of consanguinity. Linkage and lod-score data suggesting that 6 of 26 (23%) Turkish families showed potential linkage to TMPRSS3 gene.

The findings imply that TMPRSS3 might be one of the major contributory genes to non-syndromic recessive prelingual deafness in Turkish population. Linkage to TMPRSS3 gene in Turkish patients is reported for the first time in this study.Recessive hearing loss, TMPRSS3 gene



Key words:Recessive hearing loss, TMPRSS3 gene

References

  • Petit, C. Genes responsible for human hereditary deafness: Symphony of a thousand. Nat Genet 1996; 14, 385-391.
  • Sundstrom RA, Laer LV, Camp GV, Smith RJH. Autosomal recessive nonsyndromic hearing loss. Am J Med Genet 1999; 89, 123-129.
  • Willems PJ. Genetic causes of hearing loss. The New England Journal o Medicine 2000; 342, 1101-1128.
  • Baldwin CT, Weiss S, Farrer LA, Stefano AL, Adair R, Franklyn B, et al. Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence of genetic heterogeneity in the Middle Eastern Druze population. Hum Mol Genet 1995; 4, 1637-1642.
  • Petit C, Levilliers J, Hardelin J. Molecular genetics of hearing loss. Annu Rev Genet 2001; 35, 589-646.
  • Van Camp G, Smith R. Antwerp Hereditary Hearing Loss Homepage. http://dnalabwww. uia.ac.be/dnalab/hhh.
  • Veske A, Oehlmann R, Younus F, Mohyuddin A, Muller-Myhsok B, Mehdi SQ, et. al. Autosomal recessive nonsyndromic deafness locus (DFNB8) maps on chromosome 21q22 in a large consanguineous kindred from Pakistan. Hum Mol Genet 1996; 5, 165- 168.
  • Bonne-Tamir B, DeStefano A, Briggs CE, Adair R, Franklyn B, Weiss S, et al. Linkage of congenital recessive deafness (gene DFNB10) to chromosome21q22.3. Am J Hum Genet 1996; 58, 1254-1259.
  • Ben-Yosef T, Wattenhofer M, Riazuddin S, Ahmed ZM, Scott HS, Kudaoh J, et al. Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness. J Med Genet 2001; 38, 396-400.
  • Wattenhofer M, Iorio MVD, Rabionet R, Dougherty L, Pampanos A, Schwede T, et al. Mutations in the TMPRSS3 gene are rare cause of childhood nonsyndromic deafness in Caucasian patients. J Mol Med 2002; 80, 124-131.
  • Grimberg J, Nawoschick S, Belluscio L, McKee R, Turck A, Eisenberg A. A simple and efficient non- organic procedure for isolation of genomic DNA from blood. Nucleic Acids Res 1989; 17, 8390.
  • Tekin M, Akar N, Cin S, Blanton SH, Xia XJ, Liu XZ, et al. Connexin 26 (GJB2) mutations in the Turkish population: implications for the origin and high frequency of the 35delG mutation in Caucasians. Hum Genet, May 2001; 108(5), 385-389.
  • Baris I, Kilinc MO, Tolun A. Frequency of the 35delG mutation in the connexin26 gene in Turkish hearing- impaired patients. Clin Genet 2001; 60(6), 452-455.
  • Dracopoli NC, Haines JL, Korf BR, Moir DT, Morton CC, Seidman CE, et al. Current Protocols In Human Genetics 1995; Volume 1, John Wiley & Sons, Inc.
Year 2005, Volume: 12 Issue: 3, 31 - 35, 09.04.2009

Abstract

References

  • Petit, C. Genes responsible for human hereditary deafness: Symphony of a thousand. Nat Genet 1996; 14, 385-391.
  • Sundstrom RA, Laer LV, Camp GV, Smith RJH. Autosomal recessive nonsyndromic hearing loss. Am J Med Genet 1999; 89, 123-129.
  • Willems PJ. Genetic causes of hearing loss. The New England Journal o Medicine 2000; 342, 1101-1128.
  • Baldwin CT, Weiss S, Farrer LA, Stefano AL, Adair R, Franklyn B, et al. Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence of genetic heterogeneity in the Middle Eastern Druze population. Hum Mol Genet 1995; 4, 1637-1642.
  • Petit C, Levilliers J, Hardelin J. Molecular genetics of hearing loss. Annu Rev Genet 2001; 35, 589-646.
  • Van Camp G, Smith R. Antwerp Hereditary Hearing Loss Homepage. http://dnalabwww. uia.ac.be/dnalab/hhh.
  • Veske A, Oehlmann R, Younus F, Mohyuddin A, Muller-Myhsok B, Mehdi SQ, et. al. Autosomal recessive nonsyndromic deafness locus (DFNB8) maps on chromosome 21q22 in a large consanguineous kindred from Pakistan. Hum Mol Genet 1996; 5, 165- 168.
  • Bonne-Tamir B, DeStefano A, Briggs CE, Adair R, Franklyn B, Weiss S, et al. Linkage of congenital recessive deafness (gene DFNB10) to chromosome21q22.3. Am J Hum Genet 1996; 58, 1254-1259.
  • Ben-Yosef T, Wattenhofer M, Riazuddin S, Ahmed ZM, Scott HS, Kudaoh J, et al. Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness. J Med Genet 2001; 38, 396-400.
  • Wattenhofer M, Iorio MVD, Rabionet R, Dougherty L, Pampanos A, Schwede T, et al. Mutations in the TMPRSS3 gene are rare cause of childhood nonsyndromic deafness in Caucasian patients. J Mol Med 2002; 80, 124-131.
  • Grimberg J, Nawoschick S, Belluscio L, McKee R, Turck A, Eisenberg A. A simple and efficient non- organic procedure for isolation of genomic DNA from blood. Nucleic Acids Res 1989; 17, 8390.
  • Tekin M, Akar N, Cin S, Blanton SH, Xia XJ, Liu XZ, et al. Connexin 26 (GJB2) mutations in the Turkish population: implications for the origin and high frequency of the 35delG mutation in Caucasians. Hum Genet, May 2001; 108(5), 385-389.
  • Baris I, Kilinc MO, Tolun A. Frequency of the 35delG mutation in the connexin26 gene in Turkish hearing- impaired patients. Clin Genet 2001; 60(6), 452-455.
  • Dracopoli NC, Haines JL, Korf BR, Moir DT, Morton CC, Seidman CE, et al. Current Protocols In Human Genetics 1995; Volume 1, John Wiley & Sons, Inc.
There are 14 citations in total.

Details

Primary Language English
Journal Section Research Articles
Authors

Nilüfer Şahin Calapoğlu

Mustafa Calapoğlu This is me

Ahmet Karagüzel This is me

Publication Date April 9, 2009
Submission Date April 8, 2009
Published in Issue Year 2005 Volume: 12 Issue: 3

Cite

Vancouver Şahin Calapoğlu N, Calapoğlu M, Karagüzel A. Non-syndromic recessive hearing loss Linkaged TMPRSS3 gene in the Turkish population. Med J SDU. 2009;12(3):31-5.

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