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Breakthrough in hereditary hearing loss in Iran

Novel gene discovery in hereditary hearing loss in Iran

Hearing loss (HL) is an etiologically heterogeneous disorder that affects around 5% of the world's population and is expected to affect almost 2.5 billion individuals by 2050. Over the years, with the advancement of technology and the use of methods such as Linkage analysis and Next-generation sequencing, other valuable studies have been conducted at the Genetic Research Center of the University of Social Welfare and Rehabilitation Sciences. A research aimed at discovering novel hearing loss genes in Iranian deaf families using ES was conducted at this center and led to the discovery of eight novel candidate genes.

Hearing loss (HL) is an etiologically heterogeneous disorder that affects around 5% of the world's population and is expected to affect almost 2.5 billion individuals by 2050. Iran is located in a region of the world where consanguineous marriages are common. This population is a valuable resource for studying heterogeneous genetic diseases such as hearing loss. In this regard, the Genetics Research Center of the University of Social Welfare and Rehabilitation Sciences began its studies on the genetic basis of hearing loss in Iran more than 20 years ago. During these years, more than 2200 families with two or more affected members from different parts of Iran were collected and studied.
Over the years, with the advancement of technology and the use of methods such as Linkage analysis and Next-generation sequencing, other valuable studies have been conducted at this center, all of which have been published in prestigious journals.
In general, considering the frequencies of all known hearing loss genes in the Genetic Research Center of the University of Social Welfare and Rehabilitation Sciences, the diagnostic rate of hearing loss is estimated at about 80% in the Iranian population.
Recently, a pioneering research aimed at discovering novel hearing loss genes in Iranian deaf families using ES was conducted at the Genetic Research Center of the University of Social Welfare and Rehabilitation Sciences and led to the discovery of eight novel candidate genes: DBH, TOP3A, COX18, USP31, SCP2, and CARMIL1 for autosomal recessive HL, TCF19 for autosomal dominant HL, and TENM1 for X-linked-recessive HL. The results were published in July 2021 in an article entitled ?Exome sequencing utility in defining the genetic landscape of hearing loss and novel-gene discovery in Iran" published in the journal "Clinical Genetics".

2021/12/11  -  10:01 / شماره خبر : 21234 / تعداد نمایش : 744