Article
Genetic landscape of hearing loss in prelingual deaf patients of eastern Iran: Insights from exome sequencing analysis.
Clinical genetics - 1 Dec 2024
Alerasool Masoome, Eslahi Atieh, Vona Barbara, Kahaei Mir Salar, Mojaver Nasrin Kaseb, Rajati Mohsen, Pasdar Alireza, Ghasemi Mohammad Mehdi, Saburi Ehsan, Ardehaie Reza Mousavi, Aval Majid Hadadi, Tale Mohammad Reza, Nourizadeh Navid, Afzalzadeh Mohammad Reza, Niknezhad Hamid Tayarani, Mojarrad Majid
Abstract excerpt
Hearing loss is one of the most prevalent genetic disorders in humans. Locus and allelic heterogeneity cause fundamental challenges in hearing loss genetic diagnosis and management of patients and their families. This study examined the genetic profile of patients with prelingual hearing loss who were referred to the Genetic Foundation of Khorasan Razavi spanning over a decade. Deleterious variants in GJB2 were...
Topics
- Humans
- Exome Sequencing
- Iran
- Male
- Female
- Connexin 26
- Hearing Loss
- Deafness
- Mutation
- Child
- Genetic Predisposition to Disease
- Alleles
- Exome