Hearing loss (HL) is the most prevalent sensory defect affecting 1 in 500 neonates. Genetic
factors are involved in half of the cases. The extreme heterogeneity of HL makes it difficult to …

BACKGROUND The introduction of newborn hearing screening has led to earlier
identification of children with congenital sensorineural hearing loss (SNHL). Aetiological …

The aim of the study was to determine (1) the frequency and type of mutations in the coding
region of the GJB2 gene (sequencing),(2) the frequency of splice site mutation IVS1+ 1G> A …

OBJECTIVE: In Central and South-Eastern European countries, the most frequent mutation
types responsible for congenital nonsyndromic sensorineural hearing loss (NSHL) are c …

Background: Hearing impairment (HI) is a heterogeneous disorder. GJB2 and GJB6 genes
are typically the first line of genetic screening before proceeding to any massive parallel …

Most nonsyndromic hearing losses are caused by mutations in the GJB2 gene, and studies
have revealed that the forms and frequencies of these mutations are largely dependent on …

Objective: In this study, the aim of prenatal screening was to estimate the carrier frequency of
the three mutations 35delG, del (GJB6-D13S1830), and del (GJB6-D13S1854), which are …

Introduction. At the moment there is not enough data in Romania about the incidence of the
main genetic mutations which can cause hearing loss. Objective. The current research aims …

En Abstract Aim The aim of this study was to detect 35delG and 167delT mutations in the
connexin 26 gene among Egyptian patients with nonsyndromic sensorineural hearing loss …

Objective: 35delG mutation in the GJB2 (gap junction protein beta 2, connexin 26) gene is
the most frequent mutation in patients with non-syndromic autosomal recessive deafness …