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GJB2 and GJB6 genes: Molecular study and identification of novel GJB2 mutations in the hearing-impaired argentinean population
(Karger, 2010-03)
Mutations in the GJB2 gene are responsible for more than half of all cases of recessive non-syndromic deafness. This article presents a mutation analysis of the GJB2, GJB6, OTOF and MTRNR1 genes in 252 patients with ...
Evaluación de mutaciones en los genes GJB2 y GJB6 en pacientes con sordera congénita identificados mediante screening neonatal
(2012)
La hipoacusia neurosensorial congénita es una patología frecuente que si no es detectada y tratada oportunamente genera alteraciones en el desarrollo del niño. Desde el año 2005 se lleva a cabo en el Complejo Hospitalario ...
GJB2 and GJB6 genetic variant curation in an Argentinean non-syndromic hearing-impaired cohort
(MDPI AG, 2020-10-21)
Genetic variants in GJB2 and GJB6 genes are the most frequent causes of hereditary hearing loss among several deaf populations worldwide. Molecular diagnosis enables proper genetic counseling and medical prognosis to ...
Identification of four novel connexin 26 mutations in non-syndromic deaf patients: genotype/phenotype analysis in moderate cases
(Springer, 2013-10-25)
This paper presents a mutation as well as a genotype-phenotype analysis of the GJB2 and GJB6 genes in 476 samples from non-syndromic unrelated Argentinean deaf patients (104 familial and 372 sporadic cases). Most of them ...
Prevalence of GJB2 (Connexin-26) and GJB6 (Connexin-30) Mutations in a Cohort of 300 Brazilian Hearing-Impaired Individuals: Implications for Diagnosis and Genetic Counseling
(LIPPINCOTT WILLIAMS & WILKINS, 2009)
Objective: Hereditary nonsyndromic deafness is an autosomal recessive condition in about 80% of cases, and point mutations in the GJB2 gene (connexin 26) and two deletions in the GJB6 gene (connexin 30), del(GJB6-D13S1830) ...
Prevalence of the GJB2 mutations and the del(GJB6-D13S1830) mutation in Brazilian patients with deafness
(Elsevier Science BvAmsterdamHolanda, 2004)
A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression
(Wiley-blackwellMaldenEUA, 2010)