taken into the supporting cells, then diffuses through two syncytial networks back to the marginal cells of the stria vascularis, and is pumped by marginal cells to the Jeffrey R. Holt and David P. Corey* Howard Hughes Medical Institute and Department of Neurobiology endolymph. With such a complex and regulated flux of Harvard Medical School and K, it should perhaps come as no surprise that fiv...

Clinical characteristics. Hereditary hearing loss and deafness may be conductive, sensorineural, or a combination of both; syndromic (associated with malformations of the external ear or other organs or with medical problems involving other organ systems) or nonsyndromic (no associated visible abnormalities of the external ear or any related medical problems); and prelingual (before language de...

Qatar is a sovereign state located on the Eastern coast of the Arabian Peninsula in the Persian Gulf. Its native population consists of 3 major subgroups: people of Arabian origin or Bedouins, those from an Eastern or Persian ancestry and individuals with African admixture. Historically, all types of consanguineous marriages have been and still are common in the Qatari population, particularly ...

Hereditary hearing loss (HHL) comprises half of the congenital deafness which arises from genetic mutations. Mutations in the TJP2 gene, encoding tight junction protein 2, are one of the gene alterations in HHL resulting in an autosomal dominant nonsyndromic form of the disease. An 11-year-old male patient with clinically approved congenital hearing loss was referred to our laboratory....

The objective of the study was to examine the aetiology of sensorineural hearing loss (SNHL) in a paediatric population presenting to the National Centre of Medical Genetics. A retrospective chart review from 1998 to 2006. One hundred and twenty nine children were investigated for SNHL. The average age of diagnosis of hearing loss was 36 months. The degree of hearing loss was mild in 8 children...

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...

Our understanding of hereditary hearing loss has greatly improved since the discovery of the first human deafness gene. These discoveries have only accelerated due to the great strides in DNA sequencing technology since the completion of the human genome project. Here, we review the immense impact that these developments have had in both deafness research and clinical arenas. We review commonly...

The revolution in genetics in the past decades has enabled identification of many of the genes associated with human hereditary diseases, and hearing loss is no exception. These discoveries have a profound impact on knowledge about inner ear function and the pathology caused by mutations in these genes, which becomes clinically and socially relevant because a significant proportion of hearing l...

introduction: children learn to communicate by hearing sounds. if there is hearing loss, the cognitive and speaking abilities and language learning will deteriorate. early detection and intervention are important factors in the successful treatment of hearing loss in children. hearing loss (hl) is divided into two main groups: conductive hearing loss (chl) and sensorineural hearing loss (snhl),...

mutations in the gjb2 gene are the most common known cause of hereditary congenital hearing loss. rapid genomic dna extraction (rgde) method was used for genomic dna extraction. after amplification of coding region of cx26 gene with specific primers, expected pcr products with 724bp length were subjected to direct sequencing in both directions. we describe here a novel heterozygous -t to -c tra...