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 plus...

hearing loss (hl) is the most common communication disorder affecting about 1/1000 births worldwide caused by environmental or genetic factors. about 30-50% is attributed to genetic factors and till now more than 85 genes have been implicated in non-syndromic hl. in iran, hl is second to intellectual disability as the most common disability, affecting 1 of every 166 persons. about 15 years ago ...

consanguineous marriage is strongly favored in many large human populations. in the most parts of south asia, consanguineous marriage account for 20%  to over 50% of the general population. the effect of consanguinity on hereditary deafness has been well studied and documented. many authors have suggested that approximately one half  of sensory neural hearing loss in children can be attributed ...

Background: Our research focuses on different dimensions of families of Turkmen population of Iran with two or more than two affected members. A complete clinical ear test was conducted on them. It was aimed to find families with the highest chance of hereditary hearing impairment among siblings and also existence of consanguinity among their parents. <em...

Aggregation of diabetes and hearing loss in a family is observed in some hereditary disease. All members of the present family are affected with sensory hearing loss and diabetes mellitus. Diabetes types observed were insulin dependent diabetes mellitus (IDDM) in the proposita and the sister, non-insulin dependent diabetes mellitus (NIDDM) in the brother, and impaired glucose tolerance in the m...

BACKGROUND Hereditary hearing loss is one of the most common heterogeneous disorders, and genetic variants that can cause hearing loss have been identified in over sixty genes. Most of these hearing loss genes have been detected using classical genetic methods, typically starting with linkage analysis in large families with hereditary hearing loss. However, these classical strategies are not we...