Advanced search
Publication Cover
International Journal of Audiology Volume 51, 2012 - Issue 3
Submit an article Journal homepage
298
Views
21
CrossRef citations to date
0
Altmetric
Research Article

GJB2 and GJB6 genes and the A1555G mitochondrial mutation are only minor causes of nonsyndromic hearing loss in the Qatari population

M. Khalifa Alkowari *Molecular Genetics Laboratory; Laboratory of Medicine and Pathology, Hamad Medical Corporation (HMC), Doha, Qatar
,
G. GirottoDepartment of Reproductive Sciences and Development and Public Health, Institute of Child Health IRCCS-Burlo Garofolo, University of Trieste, Italy
,
K. Abdulhadi *Molecular Genetics Laboratory; Laboratory of Medicine and Pathology, Hamad Medical Corporation (HMC), Doha, Qatar
,
S. DipresaDepartment of Reproductive Sciences and Development and Public Health, Institute of Child Health IRCCS-Burlo Garofolo, University of Trieste, Italy
,
R. Siam *Molecular Genetics Laboratory; Laboratory of Medicine and Pathology, Hamad Medical Corporation (HMC), Doha, Qatar
,
N. NajjarAudiology and Balance Unit, National Program for Early Detection of Hearing Loss, WH, Hamad Medical Corporation (HMC), Doha, Qatar
,
R. Badii *Molecular Genetics Laboratory; Laboratory of Medicine and Pathology, Hamad Medical Corporation (HMC), Doha, Qatar
&
P. GaspariniDepartment of Reproductive Sciences and Development and Public Health, Institute of Child Health IRCCS-Burlo Garofolo, University of Trieste, ItalyCorrespondence[email protected]
 show all
Pages 181-185 | Received 29 Dec 2011, Accepted 19 Sep 2011, Published online: 21 Nov 2011

References

  • Al-Qahtani M.H., Baghlab I., Chaudhary A.G., Abuzenadah A.M., Bamanie A. . 2010. Spectrum of GJB2 mutations in a cohort of nonsyndromic hearing loss cases from the Kingdom of Saudi Arabia. Genet Test Mol Biomarkers, 14, 79–83.
  • Barashkov N.A., Dzhemileva L.U., Fedorova S.A., Teryutin F.M., Posukh O.L. . 2011. Autosomal recessive deafness 1A (DFNB1A) in Yakut population isolate in Eastern Siberia: Extensive accumulation of the splice site mutation IVS1 + 1G > A in GJB2 gene as a result of founder effect. J Hum Genet. Jul 21. doi: 10.1038/jhg.2011.72. [Epub ahead of print]
  • Bener A., Eihakeem A.A. & Abdulhadi K. 2005. Is there any association between consanguinity and hearing loss. Int J Pediatr Otorhinolaryngol, 69, 327–33.
  • Bener A., Hussain R. & Teebi A.S. 2007. Consanguineous marriages and their effects on common adult diseases: Studies from an endogamous population. Med Princ Pract, 16, 262–7.
  • Chaleshtori M.H., Zohour M.M., Rad L.H., Pour-Jafari H., Farhud D.D. . 2006. Autosomal recessive and sporadic non syndromic hearing loss and the incidence of cx26 mutations in a province of Iran. Iranian J Publ Health, 35, 88–91.
  • Del Castillo I., Moreno-Pelayo M.A., Del Castillo F.J., Brownstein Z., Marlin S.. 2003. Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: A multicenter study. Am J Hum Genet, 73, 1452–8.
  • Denoyelle F., Marlin S., Weil D., Moatti L., Chauvin P. 1999. Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: Implications for genetic counselling. Lancet, 17, 353, 1298–303.
  • Esmaeili M., Bonyadi M. & Nejadkazem M. 2007. Common mutation analysis of GJB2 and GJB6 genes in affected families with autosomal recessive non-syndromic hearing loss from Iran: Simultaneous detection of two common mutations (35delG/del (GJB6-D13S1830)) in the DFNB1-related deafness. Int J Pedriatr Otorhinolaryngol, 71, 869–73.
  • Green G.E., Scott D.A., McDonald J.M., Woodworth G.G., Sheffield . 1999. Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness. JAMA, 281, 2211–6.
  • Hamid M., Karimipoor M., Chaleshtori M.H. & Akbari M.T. 2009. A novel 355-357delGAG mutation and frequency of connexin-26 (GJB2) mutations in Iranian patients. J Genet, 88, 359–62.
  • Hilgert N., Smith R.J.H. & Van Camp G. 2009. Forty-six genes causing nonsyndromic hearing impairment: Which ones should be analysed in DNA diagnostics? Mutat Res, 681, 189–196.
  • Hunter-Zinck H., Musharoff S., Salit J., Al-Ali K.A., Chouchane L. . 2010. Population genetic structure of the people of Qatar. Am J Hum Genet, 87, 17–25.4
  • Jacobs H.T., Hutchin T.P., Kappi T., Gillies G., Minkkinen K. . 2005. Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment. Eur J Hum Genet, 13, 26–33.
  • Janecke A.R., Hirst-Stadlmann A., Günther B., Utermann B., Müller T. . 2002. Progressive hearing loss, and recurrent sudden sensorineural hearing loss associated with GJB2 mutations phenotypic spectrum and frequencies of GJB2 mutations in Austria. Hum Genet, 111, 145–153.
  • Kenna M.A., Wu B-L., Cotanche D.A., Korf B.R. & Rehm H.L. 2001. Connexin 26 studies in patients with sensorineural hearing loss. Arch Otolaryngol Head Neck Surg, 127, 1037–1042.
  • Mahdieh N., Rabbani B., Wiley S., Akbari M.T. & Zeinali S. 2010. Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations. J Hum Genet, 55, 639–48.
  • Najmabadi H., Nishimura C., Kahrizi K., Riazalhosseini Y., Malekpuor M. . 2005. GJB2 mutations: Passage through Iran. Am J Med Genet A, 133A, 132–7.
  • Simsek M., Al-Wardy N., Al-Khayat A., Shanmugakonar M., Al-Bulushi T. . 2001. Absence of deafness-associated connexin-26 (GJB2) gene mutations in the Omani population. Hum Mutat, 18, 545–6.
  • Sirmaci A., Akcayoz-Duman D. & Tekin M. 2006. The c.IVS1 + 1G > A mutation in the GJB2 gene is prevalent and large deletions involving the GJB6 gene are not present in the Turkish population. J Genet, 85, 213–6.
  • Yuan Y., Wang G., Yu F., Huang S., Yu R. . 2010. Prevalence of the GJB2 IVS1 + 1G > A mutation in Chinese hearing loss patients with monoallelic pathogenic mutation in the coding region of GJB2. J Transl Med, 8, 127.
  • Zelante L., Gasparini P., Estivill X., Melchionda S., D'Agruma L. . 1997. Connexin 26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. Hum MolGenet, 6, 1605–09.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Order Reprints Request Corporate Permissions

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

Request Academic Permissions

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.

Related research

People also read lists articles that other readers of this article have read.

Recommended articles lists articles that we recommend and is powered by our AI driven recommendation engine.

Cited by lists all citing articles based on Crossref citations.
Articles with the Crossref icon will open in a new tab.