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:: دوره 4، شماره 4 - ( 7-1394 ) ::
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Autosomal Recessive Nonsyndromic Hearing Loss: A Case Report with a Mutation in TRIOBP Gene
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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.

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نوع مطالعه: Case Report | موضوع مقاله: Genetics & Disease
دریافت: ۱۳۹۴/۷/۲۵ | پذیرش: ۱۳۹۴/۹/۷ | انتشار: ۱۳۹۴/۹/۲۸
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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-fa.html

Autosomal Recessive Nonsyndromic Hearing Loss: A Case Report with a Mutation in TRIOBP Gene. مجله بین المللی سلولی و مولکولی. 1394; 4 (4) :245-247

URL: http://ijmcmed.org/article-1-398-fa.html



دوره 4، شماره 4 - ( 7-1394 ) برگشت به فهرست نسخه ها
International Journal of Molecular and Cellular Medicine (IJMCM) International Journal of Molecular and Cellular Medicine (IJMCM)
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