DFNB59
Dfnb59: A Comprehensive Overview
Description
Dfnb59 is a rare genetic disorder characterized by non-syndromic, autosomal dominant hearing loss. It was first identified in a large family of Pakistani descent, and has since been reported in several other families worldwide.
Dfnb59 is caused by mutations in the TYMP gene, which encodes for thymidylate synthetase, an enzyme essential for DNA synthesis. Mutations in TYMP disrupt the enzyme's function, leading to impaired DNA replication and cell death, particularly in rapidly dividing cell types like those in the inner ear.
The hearing loss in Dfnb59 is typically progressive, beginning in childhood or adolescence. It affects both low and high frequencies, and can lead to severe to profound deafness in adulthood. The progression of hearing loss varies significantly among affected individuals, with some experiencing a rapid decline while others maintain a stable level of hearing over time.
Associated Diseases
Dfnb59 is not typically associated with any other medical conditions or syndromes. However, some affected individuals have reported experiencing tinnitus, a ringing or buzzing sound in the ears.
Did you Know ?
Dfnb59 is estimated to affect approximately 1 in 50,000 people worldwide. However, due to underdiagnosis and the lack of awareness about the disorder, the actual prevalence may be higher.
