hearing impairment
|
0.500 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
hearing impairment
|
0.500 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
Detection of a novel Cys628STOP mutation of the myosin VIIA gene in Usher syndrome type Ib.
|
9843659 |
1998 |
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11).
|
15221449 |
2004 |
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
LHGDN |
Impaired calmodulin binding of myosin-7A causes autosomal dominant hearing loss (DFNA11).
|
15300860 |
2004 |
hearing impairment
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
These patients showed a highly variable type and degree of progressive sensorineural hearing impairment: from normal to moderate USH2A-like hearing impairment at young ages to profound or even USH1B-like hearing impairment at more advanced ages.
|
15650299 |
2005 |
hearing impairment
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
To report hearing impairment and vestibular and ocular features in a Dutch DFNA11 family and to compare these results to reported data on three other DFNA11 families.
|
16639269 |
2006 |
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
The hearing impairment was mapped to the DFNB2 locus using Affymetrix 50K GeneChips; direct sequencing of the MYO7A gene was completed.
|
20132242 |
2010 |
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Mutations within MYO7A can lead to both syndromic and non-syndromic hearing impairment in humans.
|
21150918 |
2011 |
hearing impairment
|
0.500 |
AlteredExpression
|
phenotype |
BEFREE |
The T(-4128) SNP may be contributing to the severe hearing loss phenotype in the HL2 pedigree by reducing expression of the wild-type MYO7A allele.
|
21378158 |
2011 |
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Identification and functional study of a new missense mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11).
|
23383098 |
2013 |
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Mutations in MYO7A cause autosomal recessive Usher syndrome type IB (USH1B), one of the most frequent conditions that combine severe congenital hearing impairment and retinitis pigmentosa.
|
23991031 |
2013 |
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Targeted exome sequencing further identified the causal mutations in the remaining seven families: CIB2:c.97C > T; p.(Arg33*), MYO7A:c.470+1G > A; p.(?), and SLC26A4:c.410C > T; p.(Ser137Leu) biallelic mutations in two families each, and a TECTA:c.2743 A > G; p.(Ile915Val) monoallelic mutation in the only family with autosomal dominant transmission of the HI.
|
30055715 |
2018 |
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
In patients with both visual and hearing impairments, the biallelic disease-causing mutation rate was assessed for each Usher gene to propose a classification by frequency: USH2A: 50% (341/684) of patients, MYO7A: 21% (144/684), CDH23: 6% (39/684), ADGRV1: 5% (35/684), PCDH15: 3% (21/684), USH1C: 2% (17/684), CLRN1: 2% (14/684), USH1G: 1% (9/684), WHRN: 0.4% (3/684), PDZD7 0.1% (1/684), CIB2 (0/684).
|
30531642 |
2019 |