hearing impairment
|
0.480 |
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 |
hearing impairment
|
0.480 |
GeneticVariation
|
phenotype |
BEFREE |
Homozygosity of p.(Cys759Phe) and compound heterozygosity with another USH2A missense variant is associated with ARRP or ARRP plus late onset hypoacusis (OR = 20.62, CI = 95%, p = 0.041).
|
29912909 |
2018 |
hearing impairment
|
0.480 |
Biomarker
|
phenotype |
BEFREE |
Consequently, the disruption of Ush2a in zebrafish led to a hearing impairment, like that in mammals.
|
30242501 |
2018 |
hearing impairment
|
0.480 |
Biomarker
|
phenotype |
BEFREE |
Combined retinal degeneration and sensorineural hearing impairment is mostly due to autosomal recessive Usher syndrome (USH1: congenital deafness, early retinitis pigmentosa (RP); USH2: progressive hearing impairment, RP).
|
28944237 |
2017 |
hearing impairment
|
0.480 |
GeneticVariation
|
phenotype |
BEFREE |
A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa.
|
27318125 |
2016 |
hearing impairment
|
0.480 |
GeneticVariation
|
phenotype |
BEFREE |
Patients with USH type II (USH2) have retinitis pigmentosa (RP) that develops during puberty, moderate to severe hearing impairment with downsloping pure-tone audiogram, and normal vestibular function.
|
18806881 |
2008 |
hearing impairment
|
0.480 |
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
|
0.480 |
Biomarker
|
phenotype |
BEFREE |
Patients with USH1 have severe to profound congenital hearing impairment, vestibular dysfunction, and retinal degeneration beginning in childhood, while those with USH2 have moderate to severe hearing impairment, normal vestibular function, and later onset of retinal degeneration.
|
10704190 |
1999 |
hearing impairment
|
0.480 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa.
|
9624053 |
1998 |
hearing impairment
|
0.480 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|