|
hearing impairment
|
|
0.800 |
GeneticVariation
|
BEFREE |
We delineated the longitudinal auditory features of the highly prevalent GJB2 p.V37I mutation on a general population basis and confirmed the utility of newborn genetic screening in identifying infants with late-onset or progressive hearing impairment undetectable by newborn hearing screening.Genet Med 19 1, 6-12.
|
27308839 |
2017 |
|
hearing impairment
|
|
0.800 |
GeneticVariation
|
BEFREE |
Among the hearing impaired subjects with homozygous p.V37I, the onset of HI was congenital in 65% (11/17) and delayed in 35% (6/17).
|
24654934 |
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
hearing impairment
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
hearing impairment
|
|
0.800 |
GeneticVariation
|
CLINVAR |
|
|
|