Literature comparison of mutations observed in the GJB2 gene
It is known that mutations in the GJB2 gene have a significant role in non-syndromic hearing loss.
The frequency of the mutations in GJB2 was higher (2.
09%) had heterozygous mutations 235delC and IVS7-2A>G in both GJB2 and SLC26A4 gene respectively.
With the exception of Ghana,  mutations in GJB2 (connexin 26) have not been shown to be a major contributor to deafness in sub-Sahara Africa.
All 205 patients were investigated for GJB2 gene, as previously reported.
El gen oToF es el tercero mas frecuentemente asociado a la etiologia de las sorderas no sindromicas, despues de GJB2 y GJB6 y, por lo tanto, su estudio toma una especial relevancia.
35delG (17,0%) en el gen GJB2, segun lo reportado por nuestro grupo en estudios previos en esta poblacion.
High-throughput screening for GJB2
mutations- its clinical application to genetic testing in prelingual deafness screening for GJB2
Autosomal Recessive Nonsyndromic Hearing Loss Loci Characteristics Locus/Location Gene Name Onset/Decade Type DFNB1/13g12 GJB2
Prelingual Stable DFNB2/11q13.
gene that encodes a protein called connexin 26 was demonstrated to be associated with 25% to 50% of the cases of hereditary deafness in Western countries, as well as in countries around the Mediterranean Sea.
G45E) in GJB2
, were identified [Supplementary Figure 2 [SUPPORTING:4]].
O loco DFNB1 contem dois genes associados com a DA, o gene GJB2
codificando a conexina 26 (OMIM 12011) e o GJB6 codificando a conexina 30 (OMIM 604418).
Genetic testing for mutations in GJB2
is now offered clinically, although a positive control for the most common mutation, 35de1G, is not publicly available.
We screened 13 cell lines from the NIGMS Repository for medically important mutations in 11 different genes: CFTR, F5, F2, MTHFR, HFE, GJB2
(connexin 26), FMR1 (fragile X), HBA1/HBA2 ([alpha]-thalassemia), FGFR3, HD, and HbS/HbC.