Nonsyndromic Deafness
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Four novel MYO7A mutations were identified in two USH1 probands who were initially diagnosed with nonsyndromic hearing loss until the onset of vision loss.
|
31035849 |
2019 |
Nonsyndromic Deafness
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
(ii) MYO7A c.2187 + 2_+8 delTGAGCAC and p.Leu728Pro were related to nonsyndromic hearing loss.
|
30826590 |
2019 |
Nonsyndromic Deafness
|
0.400 |
Biomarker
|
disease |
CLINGEN |
Identification of a MYO7A mutation in a large Chinese DFNA11 family and genotype-phenotype review for DFNA11.
|
29400105 |
2018 |
Nonsyndromic Deafness
|
0.400 |
Biomarker
|
disease |
CLINGEN |
The first sporadic case of DFNA11 identified by next-generation sequencing.
|
28802369 |
2017 |
Nonsyndromic Deafness
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in MYO7A gene have been reported to be associated with Usher Syndrome type 1B (USH1B) and nonsyndromic hearing loss (DFNB2, DFNA11).
|
26968074 |
2016 |
Nonsyndromic Deafness
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
This finding further supports the premise that the MYO7A gene is responsible for two distinct diseases and gives evidence that the p.P1887L mutation in a homozygous state may be responsible for nonsyndromic hearing loss.
|
24194196 |
2014 |
Nonsyndromic Deafness
|
0.400 |
Biomarker
|
disease |
BEFREE |
Moreover, new variants in genes such as COCH, MYO7A and POU4F3 are associated with nonsyndromic deafness and vestibular dysfunction.
|
24275721 |
2014 |
Nonsyndromic Deafness
|
0.400 |
Biomarker
|
disease |
CLINGEN |
Application of massively parallel sequencing to genetic diagnosis in multiplex families with idiopathic sensorineural hearing impairment.
|
23451214 |
2013 |
Nonsyndromic Deafness
|
0.400 |
Biomarker
|
disease |
CLINGEN |
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 |
Nonsyndromic Deafness
|
0.400 |
Biomarker
|
disease |
CLINGEN |
Novel missense mutations in MYO7A underlying postlingual high- or low-frequency non-syndromic hearing impairment in two large families from China.
|
21150918 |
2011 |
Nonsyndromic Deafness
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Recessive mutations of the myosin VIIA (MYO7A) gene are reported to be responsible for both a deaf-blindness syndrome (Usher type 1B [USH1B] and atypical Usher syndrome) and nonsyndromic hearing loss (HL; Deafness, Neurosensory, Autosomal Recessive 2 [DFNB2]).
|
21031134 |
2010 |
Nonsyndromic Deafness
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Our results indicate that Arg206 and Thr381 residues in the motor head region of MYO7A protein are critical sites and the mutations of these residues may lead to the development of nonsyndromic deafness.
|
19299023 |
2009 |
Nonsyndromic Deafness
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
DFNA15 is the third cochleovestibular disorder, after DFNA9 and DFNA11, in the autosomal dominant nonsyndromic hearing impairment.
|
19372648 |
2009 |
Nonsyndromic Deafness
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
One family segregated nonsyndromic hearing loss DFNB2 due to a novel three-nucleotide deletion in an exon of MYO7A (p.E1716del) encoding a region of the tail domain.
|
18181211 |
2008 |
Nonsyndromic Deafness
|
0.400 |
Biomarker
|
disease |
BEFREE |
Seven different unconventional myosin genes are involved in ten different types of syndromic and nonsyndromic hearing loss with different patterns of inheritance: MYO7A in DFNA11/DFNB2/USH1B, MYH9 in DFNA17, MYH14 in DFNA4, MYO6 in DFNA22/DFNB37, MYO3A in DFNB30, MYO1A in DFNA48, and MYO15A in DFNB3.
|
18348273 |
2008 |
Nonsyndromic Deafness
|
0.400 |
Biomarker
|
disease |
CLINGEN |
Identification of a novel mutation in the myosin VIIA motor domain in a family with autosomal dominant hearing loss (DFNA11).
|
16449806 |
2006 |
Nonsyndromic Deafness
|
0.400 |
Biomarker
|
disease |
CLINGEN |
Modifier controls severity of a novel dominant low-frequency MyosinVIIA (MYO7A) auditory mutation.
|
15121790 |
2004 |
Nonsyndromic Deafness
|
0.400 |
Biomarker
|
disease |
CLINGEN |
Impaired calmodulin binding of myosin-7A causes autosomal dominant hearing loss (DFNA11).
|
15300860 |
2004 |
Nonsyndromic Deafness
|
0.400 |
Biomarker
|
disease |
CLINGEN |
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 |
Nonsyndromic Deafness
|
0.400 |
Biomarker
|
disease |
CLINGEN |
A Myo7a mutation cosegregates with stereocilia defects and low-frequency hearing impairment.
|
15389316 |
2004 |
Nonsyndromic Deafness
|
0.400 |
Biomarker
|
disease |
BEFREE |
Data from both linkage and heterogeneity analyses on 36 selected autosomal recessive nonsyndromic deafness (RNSD) families, all previously excluded by mutational analysis from GJB2 (Cx26), the leading cause of nonsyndromic deafness, showed no evidence of DFNB2 within the sample.
|
11992483 |
2002 |
Nonsyndromic Deafness
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Phenotype of DFNA11: a nonsyndromic hearing loss caused by a myosin VIIA mutation.
|
11889386 |
2002 |
Nonsyndromic Deafness
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The discovery that the mouse shaker1 (Myo7(ash1)) locus encodes myosin VIIA led immediately to the identification of mutations in this gene in Usher syndrome type 1B; subsequently, mutations in this gene were also found associated with recessive and dominant nonsyndromic hearing loss (DFNB2 and DFNA11).
|
10704189 |
1999 |
Nonsyndromic Deafness
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
For example, mutations in the gene encoding MYO7A cause Usher syndrome type IB, autosomal-recessive nonsyndromic hearing impairment (DFNB2), and autosomal-dominant nonsyndromic hearing impairment (DFNA11).
|
9927480 |
1999 |
Nonsyndromic Deafness
|
0.400 |
Biomarker
|
disease |
CLINGEN |
Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene.
|
9354784 |
1997 |