Author/Authors :
Fardaei، Majid نويسنده Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran , , Sarrafzadeh، Shaghayegh نويسنده Department of Medical Genetics, Shahid Beheshti University of Medical sciences, Tehran, Iran. , , Ghafouri-Fard، Soudeh نويسنده , , Miryounesi، Mohammad نويسنده Genomic Research Center, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran. ,
Abstract :
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.
