|
Sensorineural Hearing Loss (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
To determine the frequency of 35delG and D13S1830 mutations in GJB2 and GJB6 genes respectively in patients with non-syndromic sensorineural hearing loss from Minas Gerais, Brazil.
|
30837189 |
2019 |
|
Sensorineural Hearing Loss (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
First report of prevalence c.IVS1+1G>A and del (GJB6-13S1854) mutations in Syrian families with non-syndromic sensorineural hearing loss.
|
28012540 |
2017 |
|
Sensorineural Hearing Loss (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
346 patients (176 males, 170 females) with sensorineural hearing loss of 30dB HL or more, aged 21.8±19.9 years (including 147 children <14 years), underwent both genetic study for GJB2 and GJB6 mutations and electrocardiography.
|
27177978 |
2017 |
|
Sensorineural Hearing Loss (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
To analyze the prevalence of GJB2, GJB6 mutations in several geographic areas of Mexico in patients with hereditary SNHL.
|
24774219 |
2014 |
|
Sensorineural Hearing Loss (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
GJB2 mutations cause autosomal recessive (DFNB1) and sometimes dominant (DFNA3) non-syndromic sensorineural hearing loss.
|
23751281 |
2013 |
|
Sensorineural Hearing Loss (disorder)
|
0.200 |
Biomarker
|
disease |
BEFREE |
This study was therefore performed to elucidate the genetic characteristics of Korean patients with nonsyndromic sensorineural hearing loss and to determine the pathological mechanism of hearing loss by analyzing the intercellular communication function of Cx30 and Cx31 variants.
|
22617145 |
2013 |
|
Sensorineural Hearing Loss (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
These findings: (1) demonstrate that GJB2, GJB6 deletion and A1555G mutation account for a minor proportion of NSHHL in the Qatari population, (2) further strengthen the need to search for causative genes, (3) clearly contribute to establishing preventive strategies for NSHHL in Qatar and in the Gulf area.
|
22103400 |
2012 |
|
Sensorineural Hearing Loss (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Testing for common GJB2/GJB6 mutations in pediatric patients has considerable value in establishing an etiologic diagnosis for SNHL.
|
22785241 |
2012 |
|
Sensorineural Hearing Loss (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
To determine the prevalence of 35delG/GJB2 and del (GJB6-D13S1830) mutations in patients with sensorineural hearing impairment in residents from the Espirito Santo state, Brazil.
|
20835527 |
2011 |
|
Sensorineural Hearing Loss (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Deletions of GJB6, which encodes connexin 30, cause SNHL in a digenic manner with a heterozygous GJB2 mutation.
|
19877196 |
2010 |
|
Sensorineural Hearing Loss (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Screening for GJB2 and GJB6 gene mutations in patients from Campania region with sensorineural hearing loss.
|
20233142 |
2010 |
|
Sensorineural Hearing Loss (disorder)
|
0.200 |
GeneticVariation
|
disease |
LHGDN |
A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort.
|
17666888 |
2007 |
|
Sensorineural Hearing Loss (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The frequency and distribution of sequence changes in GJB2 and GJB6 in North America differ from those previously reported, suggesting a considerable role for loci other than GJB2 and GJB6 in the etiology of autosomal recessive nonsyndromic sensorineural hearing loss, with minimal prevalence of the GJB6 deletion.
|
17666888 |
2007 |
|
Sensorineural Hearing Loss (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
48 children with slight/mild sensorineural hearing loss and a matched group of 90 children with normal hearing participated in a genetic study investigating mutations in the GJB2 gene, coding for connexin 26, and the presence of the del(GJB6-D13S1830) and del(GJB6-D13S1854) deletions in the GJB6 gene, coding for connexin 30.
|
16840571 |
2006 |
|
Sensorineural Hearing Loss (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Thirteen Czech patients with prelingual nonsyndromic sensorineural deafness carrying only one pathogenic mutation in the GJB2 gene were tested for the presence of the Delta(GJB6-D13S1830) mutation.
|
15638823 |
2005 |
|
Sensorineural Hearing Loss (disorder)
|
0.200 |
Biomarker
|
disease |
BEFREE |
Genetic and auditory studies of 731 children with severe-to-profound hearing loss in US schools for the deaf and 46 additional children receiving clinical services for hearing loss ranging from moderate to profound demonstrated that mutations in the connexin 26 (GJB2) and connexin 30 (GJB6) genes explain at least 12% of those with nonsyndromic sensorineural deafness.
|
16222667 |
2005 |
|
Sensorineural Hearing Loss (disorder)
|
0.200 |
Biomarker
|
disease |
BEFREE |
Genes such as the gap junction protein beta 2 (GJB2) encoding for Connexin (Cx26) and GJB6 (Cx30) are known to cause sensorineural deafness.
|
15464308 |
2004 |
|
Sensorineural Hearing Loss (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Cx 30 deletion analysis is recommended for all individuals with nonsyndromic SNHL following Cx 26 sequencing that does not demonstrate two recessive mutations.
|
12885339 |
2003 |
|
Sensorineural Hearing Loss (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Cx26 has been implicated in dominant (DFNA3) and recessive (DFNB1) forms of nonsyndromic sensorineural deafness.
|
12064630 |
2001 |
|
Sensorineural Hearing Loss (disorder)
|
0.200 |
Biomarker
|
disease |
HPO |
|
|
|