Frequency of mutations in genes related to non -syndromic deaf

Background: Dominant and recessive alleles represent approximately half of the congenital or early starting auditory loss that can have a wide range of severity. Most of the pathogenic recessive variants of genes associated with auditory loss cause congenital neurosorial deafness, which occurs in approximately 1 in 1000 births. Auditory loss has also been associated with alterations in psychosocial and motor development, this because the adquision of balance, coordination and motor control are affected, interfering with multisensory and spatial integration. Objective: Determine the prevalence of mutations in the GJB2, GJB3, SLC26A4 and 12S RRNA genes in children with non -syndromic (congenital) sensory abuse and their relationship with auditory loss and psychomotor development. Methods: An analytical observational study will be carried out that will use the cross method. The population under study will be male and female cuenca children with a diagnosis of mild to deep loss. Blood samples will be obtained and genomic DNA will be extracted for the determination of mutations in the genes involved. Likewise, psychomotor development evaluation will be applied through evaluation batteries such as PEDSQL, MABC-2 and EDI. Expected results: Prevalence of mutations in the GJB2, GJB3, SLC26A4 and 12S RRNA genes and their relationship with the degree of hearing loss. In addition, the relationship between loss of hearing and psychomotor development is determined to know if it influences the degree of affectation of psychomotor development.

21st UNIVERSITY RESEARCH PROJECT COMPETITION