Abstract
Hearing loss is the most prevalent sensory impairment in humans, affecting around 5% of the world population [1]. In developed countries it is estimated that more than 60% of cases are due to genetic causes...
Highlights
Hearing loss is the most prevalent sensory impairment in humans, affecting around 5% of the world population [1]
Using an own designed panel of generation sequencing (NGS), we studied the case of a two year old boy, with a congenital bilateral Non-syndromic hearing loss (NSHL) detected through neonatal hearing screening
The analysis revealed the presence of the heterozygous mutation c.1066C>T, p. (Arg356*), in the MITF (NM_198159.2) gene which was confirmed by Sanger sequencing
Summary
Hearing loss is the most prevalent sensory impairment in humans, affecting around 5% of the world population [1]. In developed countries it is estimated that more than 60% of cases are due to genetic causes. Hereditary hearing loss can be non-syndromic or syndromic. Non-syndromic hearing loss (NSHL) constitutes 70% of it, currently 134 loci have been determined and over 90 genes causally in it. Syndromic hearing loss (SHL) constitutes 30% of the disease, more than 400 syndromes are known with hearing loss as one of the symptoms and for many of these the causative genes have been identified. Some of the most frequently occurring syndromes involving hearing loss includes Branchio-Oto-Renal syndrome, Waardenburg syndrome, Pendred syndrome and Usher syndromes among others
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