Research of genetic bases of hereditary non-syndromic hearing loss
نویسندگان
چکیده
منابع مشابه
[Hereditary hearing loss: genetic counselling].
The aim of this review is to provide an updated overview of hereditary hearing loss, with special attention to the etiological diagnosis of sensorineural hearing loss, the genes most frequently mutated in our environment, the techniques available for their analysis and the clinical implications of genetic diagnosis. More than 60% of childhood sensorineural hearing loss is genetic. In adults, th...
متن کاملHereditary Hearing Loss: Genetic Counselling
The aim of this review is to provide an updated overview of hereditary hearing loss, with special attention to the etiological diagnosis of sensorineural hearing loss, the genes most frequently mutated in our environment, the techniques available for their analysis and the clinical implications of genetic diagnosis. More than 60% of childhood sensorineural hearing loss is genetic. In adults, th...
متن کاملThe effect of cochlear implantation on the improvement of hearing performance in children suffering from profound hereditary and Non-hereditary hearing loss
Introduction: Hearing is one of the dominant senses of humans. In fact, human beings learn the language which is spoken in their environment and, then, develop the capability to speak. Cochlear implantation is introduced worldwide as a method for the treatment of the severe-to-profound sensory-neural hearing loss. Therefore, the present study aims to investigate the effect of cochlear implantat...
متن کاملEvaluation of GJB2 and GJB6 Mutations in Patients Afflicted with Non-syndromic Hearing Loss
Background Non-syndromic hearing loss (NSHL) is assumed as one of the highly prevalent congenital defects in the world. In this regard, gap junction protein beta 2(GJB2), and gap junction protein beta 6(GJB6) mutations are considered as the leading congenital causes of deafness. The present study aimed to assess the prevalence of GJB2 and GJB6 mutations in NSHL cases. Materials and Methods This...
متن کاملInvestigating Seven Recently Identified Genes in 100 Iranian Families with Autosomal Recessive Non-syndromic Hearing Loss
Objectives: Hearing loss (HL) is the most common sensory disorder, and affects 1 in 1000 newborns. About 50% of HL is due to genetics and 70% of them are non-syndromic with a recessive pattern of inheritance. Up to now, more than 50 genes have been detected which are responsible for autosomal recessive non-syndromic hearing loss, (ARNSHL). In Iran, HL is one of the most common disabilitie...
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ژورنال
عنوان ژورنال: Türk Pediatri Arşivi
سال: 2017
ISSN: 1306-0015,1308-6278
DOI: 10.5152/turkpediatriars.2017.4254