DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.800 |
CausalMutation
|
CLINVAR |
Non-syndromic hearing loss caused by the dominant cis mutation R75Q with the recessive mutation V37I of the GJB2 (Connexin 26) gene.
|
26088551 |
2015 |
hearing impairment
|
|
0.800 |
GeneticVariation
|
BEFREE |
The hearing loss phenotype ranged from mild to profound in all patients with the homozygous p.V37I variation or compound p.V37I plus other GJB2 pathogenic mutation.
|
26061099 |
2015 |
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.800 |
CausalMutation
|
CLINVAR |
The Relationship between the p.V37I Mutation in GJB2 and Hearing Phenotypes in Chinese Individuals.
|
26061099 |
2015 |
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.800 |
CausalMutation
|
CLINVAR |
Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants.
|
25262649 |
2014 |
hearing impairment
|
|
0.800 |
GeneticVariation
|
BEFREE |
To establish a high-throughput, low-cost method for neonatal genetic testing of the p.V37I of GJB2 gene, which is highly prevalent in East Asians and strongly associated with postnatal childhood hearing impairment.
|
24814571 |
2014 |
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.800 |
CausalMutation
|
CLINVAR |
Homozygosity for the V37I GJB2 mutation in fifteen probands with mild to moderate sensorineural hearing impairment: further confirmation of pathogenicity and haplotype analysis in Asian populations.
|
23873582 |
2013 |
hearing impairment
|
|
0.800 |
GeneticVariation
|
BEFREE |
Our results indicated that the p.V37I exclusive genotype of GJB2 may cause subclinical hearing impairment at birth and increases risk for postnatal PCHI.
|
22574200 |
2012 |
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.800 |
CausalMutation
|
CLINVAR |
Newborn genetic screening for hearing impairment: a preliminary study at a tertiary center.
|
21811586 |
2011 |
hearing impairment
|
|
0.800 |
GeneticVariation
|
BEFREE |
We tentatively suggest that M34T and V37I might cause mild HI characterized by relatively late onset and progression.
|
17935238 |
2007 |
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.800 |
CausalMutation
|
CLINVAR |
M34T and V37I mutations in GJB2 associated hearing impairment: evidence for pathogenicity and reduced penetrance.
|
17935238 |
2007 |
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.800 |
CausalMutation
|
CLINVAR |
The fate of 12 recessive mutations in a single village.
|
17331080 |
2007 |
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.800 |
CausalMutation
|
CLINVAR |
The contribution of GJB2 mutations to slight or mild hearing loss in Australian elementary school children.
|
16840571 |
2006 |
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.800 |
CausalMutation
|
CLINVAR |
Loss of function mutations of the GJB2 gene detected in patients with DFNB1-associated hearing impairment.
|
16300957 |
2006 |
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.800 |
CausalMutation
|
CLINVAR |
V37I connexin 26 allele in patients with sensorineural hearing loss: evidence of its pathogenicity.
|
17036313 |
2006 |
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.800 |
CausalMutation
|
CLINVAR |
Mutation analysis of the GJB2 (connexin 26) gene in Egypt.
|
15954104 |
2005 |
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.800 |
CausalMutation
|
CLINVAR |
Clinical features of patients with GJB2 (connexin 26) mutations: severity of hearing loss is correlated with genotypes and protein expression patterns.
|
15700112 |
2005 |
hearing impairment
|
|
0.800 |
GeneticVariation
|
BEFREE |
Within a spectrum of GJB2 mutations found in the Japanese population, the phenotype of the most prevalent mutation, 235delC, was found to show more severe hearing impairment than that of V37I, which is the second most frequent mutation.
|
15700112 |
2005 |
hearing impairment
|
|
0.800 |
GeneticVariation
|
BEFREE |
However, the lack of correlation in the severity and age-of-onset in hearing impairment with homozygous or heterozygous G79A or G109A or combination of both variants in the GJB2 gene in those subjects with hearing impairment and normal hearing indicates that those variants of GJB2 gene may not be a modifier of the phenotypic effects of the T7511C mutation in those subjects.
|
15670746 |
2005 |
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.800 |
CausalMutation
|
CLINVAR |
GJB2 mutations and degree of hearing loss: a multicenter study.
|
16380907 |
2005 |
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.800 |
CausalMutation
|
CLINVAR |
GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patients.
|
15967879 |
2005 |
hearing impairment
|
|
0.800 |
GeneticVariation
|
BEFREE |
Several common mutations (M34T, V37I, and L90P) were associated with mild-to-moderate HI (median 25-40 dB).
|
16380907 |
2005 |
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.800 |
CausalMutation
|
CLINVAR |
A genotype-phenotype correlation for GJB2 (connexin 26) deafness.
|
14985372 |
2004 |
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.800 |
CausalMutation
|
CLINVAR |
Prevalence of the GJB2 mutations and the del(GJB6-D13S1830) mutation in Brazilian patients with deafness.
|
15464305 |
2004 |
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.800 |
CausalMutation
|
CLINVAR |
High prevalence of V37I genetic variant in the connexin-26 (GJB2) gene among non-syndromic hearing-impaired and control Thai individuals.
|
15479191 |
2004 |
hearing impairment
|
|
0.800 |
GeneticVariation
|
BEFREE |
We demonstrated that certain mutation combinations (including the combination of 35delG with the missense mutations L90P, V37I, or the splice-site mutation IVS1+1G>A, and the V37I/V37I genotype) are associated with significantly less hearing impairment compared with 35delG homozygous genotypes.
|
14985372 |
2004 |