title: MYO15A splicing mutations in hearing loss: A review literature and report of a novel mutation.
abstract: Sensorineural hearing loss (SNHL) is the most prevalent genetic sensory defect in humans, affecting about 1 in 1000 newborns around the world. Non-syndromic SNHL accounts for nearly 70% of hereditary hearing loss and 80% of SNHL cases show an autosomal recessive mode of inheritance (ARNSHL). In the present study, we applied targeted-exome sequencing to a family with a single proband affected by congenital sensorineural hearing loss. 127 known genes were sequenced to find the causative mutation. One novel homozygous donor splice site mutation, c.4596 + 1G > A (IVS12 + 1G > A) was found in MYO15A gene. Analysis of this mutation within the family showed that the mutation segregates with hearing loss. New DNA sequencing technologies could lead to identification of the disease causing variants especially in highly heterogeneous disorders such as hearing loss.
authors.affiliation: Department of Molecular Genetics, Faculty of Biological Sciences, Tarbiat Modares University, Tehran, Iran.
authors.forename: Mahsa
authors.initials: M
authors.lastname: Motavaf
authors.affiliation: Genetics Research Laboratory, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran.
authors.forename: Mahdieh
authors.initials: M
authors.lastname: Soveizi
authors.affiliation: Genetics Research Laboratory, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran.
authors.forename: Majid
authors.initials: M
authors.lastname: Maleki
authors.affiliation: Genetics Research Laboratory, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran. Electronic address: nmahdieh@gmail.com.
authors.forename: Nejat
authors.initials: N
authors.lastname: Mahdieh
mesh_terms: D059472:Exome; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D009154:Mutation; D009218:Myosins / Q000235:genetics*; D010375:Pedigree; D012326:RNA Splicing / Q000235:genetics; D017422:Sequence Analysis, DNA
chemical_list: C485245:MYO15A protein, human; D009218:Myosins
keywords: Hearing loss; Intronic mutations; MYO15A