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:: Volume 4, Issue 4 (Int J Mol Cell Med 2015) ::
Int J Mol Cell Med 2015, 4(4): 245-247 Back to browse issues page
Autosomal Recessive Nonsyndromic Hearing Loss: A Case Report with a Mutation in TRIOBP Gene
Majid Fardaei1, Shaghayegh Sarrafzadeh2, Soudeh Ghafouri-Fard 3, Mohammad Miryounesi4
1- Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran.
2- Department of Medical Genetics, Shahid Beheshti University of Medical sciences, Tehran, Iran.
3- Department of Medical Genetics, Shahid Beheshti University of Medical sciences, Tehran, Iran. , s.ghafourifard@sbmu.ac.ir
4- Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Abstract:   (5128 Views)

Hearing loss (HL) is the most common sensory defect. Various genetic as well as environmental factors have been shown to contribute in it. More than 100 loci have been recognized to cause autosomal recessive nonsyndromic hearing loss (ARNSHL). Here, we report a 6-year old female patient with bilateral pre-lingual HL in whom a mutation has been identified in TRIOBP gene (c.6362C>T, S2121L). In silico analysis has shown that this variant is possibly pathogenic. Although several mutations have been detected in this gene in various populations, this is the first report identifying TRIOBP mutation in Iranian population. Consequently, the results of the present study may be of importance in genetic counseling.

Keywords: Hearing loss, TRIOBP, mutation
Full-Text [PDF 64 kb]   (1851 Downloads)    
Type of Study: Case Report | Subject: Genetics & Disease
Received: 2015/10/17 | Accepted: 2015/11/28 | Published: 2015/12/19
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Fardaei M, Sarrafzadeh S, Ghafouri-Fard S, Miryounesi M. Autosomal Recessive Nonsyndromic Hearing Loss: A Case Report with a Mutation in TRIOBP Gene. Int J Mol Cell Med. 2015; 4 (4) :245-247
URL: http://ijmcmed.org/article-1-398-en.html


Volume 4, Issue 4 (Int J Mol Cell Med 2015) Back to browse issues page
International Journal of Molecular and Cellular Medicine (IJMCM) International Journal of Molecular and Cellular Medicine (IJMCM)
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