Objective(s) Despite the enormous heterogeneity of genetic hearing loss, most non-syndromic hearing losses are caused by mutations in the GJB2 gene. We aimed to characterize the mutation profiles of 100 Iranian deaf patients that were under 10 years old. Materials and Methods Patients were tested with direct sequencing of entire coding region of the GJB2 gene. Results Eight known mutations...

It has long been recognized that heredity plays a major role in hearing impairment. Although the facts about the genetic basis of hearing loss have fascinated both clinicians and geneticists for a long time, it is only within the last few years that the genes and molecular mechanisms underlying deafness have begun to be discovered. There is a great deal of genetic heterogeneity in deafness. Thi...

Sensorineural non-syndromic hearing loss is the most common disorder which affects 1 in 500 newborns. Hearing loss is an extremely heterogeneous defect with more than 100 loci identified to date. According to the studies, mutations in GJB2 are estimated to be involved in 50- 80% of autosomal recessive non-syndromic hearing loss cases, but contribution of other loci in this disorder is yet ambig...

hearing loss (hl) is the most frequent sensory defect affecting 1 in 1000 neonates. this can occur due to genetic or environmental causes or both. the genetic causes are very heterogenous and over 100 loci have been identified to cause autosomal recessive non - syndromic hearing loss (arnshl). the aim of this study was to determine the contribution of the lrtomt gene mutations in causing arnshl...

Inherited hearing impairment is a highly heterogeneous group of disorders. 2 In a majority of cases (about 70%), the hearing loss is non-syndromic, that is, it is not associated with any other clinical feature. It can be transmitted following autosomal (recessive or dominant), X linked, or maternal inheritance patterns. In the nuclear genome, more than 70 loci have been reported to be involved ...

Hereditary deafness has proved to be extremely heterogeneous genetically with more than 40 genes mapped or cloned for non-syndromic dominant deafness and 30 for autosomal recessive non-syndromic deafness. In spite of significant advances in the understanding of the molecular basis of hearing loss, identifying the precise genetic cause in an individual remains difficult. Consequently, it is impo...

Advances in sequencing technologies and increased understanding of the contribution of genetics to congenital sensorineural hearing loss have led to vastly improved outcomes for patients and their families. Next-generation sequencing and diagnostic panels have become increasingly reliable and less expensive for clinical use. Despite these developments, the diagnosis of genetic sensorineural hea...

Background: Congenital hearing loss due to different genetic and environmental causes affects 1 in 1000 newborns. Mutations in the GJB2 (Gap Junction Beta-2) gene encoding the gap junction protein connexin 26 have been established as the main cause of autosomal recessive non-syndromic hearing loss. Materials and methods: The aim of this study was to study the frequency of GJB2 Mutations in Lor...

Objective(s): Targeted next-generation sequencing (NGS) provides a consequential opportunity to elucidate genetic factors in known diseases, particularly in profoundly heterogeneous disorders such as non-syndromic hearing loss (NSHL). Hearing impairments could be classified into syndromic and non-syndromic types. This study intended to assess the significance of mutations in these genes to the ...

Non syndromic hearing impairment is a common sensory disorder, which affects one in 600 newborns. Though more than 50 nuclear genes are involved in causing non syndromic hearing impairment, mutations in the connexin 26 (GJB2) gene explain a high proportion of congenital deafness in several populations worldwide. The diversity of genes and genetic loci implicated in hearing loss defines the comp...