Usher Syndrome, Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
To document the rod-cone dystrophy phenotype of patients with Usher syndrome type 1 (USH1) harboring MYO7A mutations.
|
31479088 |
2019 |
Usher Syndrome, Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Thirty-two eyes from 16 patients (11 males and 5 females) with a genetic diagnosis of USH1 because of MYO7A mutations underwent SS-OCT.
|
31320737 |
2020 |
Usher Syndrome, Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The present study suggests that mutations in MYO7A and CDH23 are the two major components of causes for USH1, while PCDH15, USH1C, and SANS are less frequent causes.
|
15660226 |
2005 |
Usher Syndrome, Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Novel mutations of MYO7A and USH1G in Israeli Arab families with Usher syndrome type 1.
|
22219650 |
2011 |
Usher Syndrome, Type I
|
1.000 |
Biomarker
|
disease |
BEFREE |
Our study expands the mutational spectrum of MYO7A and provides a foundation for further investigations elucidating the MYO7A-related mechanisms of USH1.
|
28688563 |
2017 |
Usher Syndrome, Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The finding of a MYO7A mutation in two related Hutterite families from northern Alberta provides evidence of genetic heterogeneity in Hutterites affected by Usher syndrome type I.
|
22690115 |
2012 |
Usher Syndrome, Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutation analysis of the MYO7A and CDH23 genes in Japanese patients with Usher syndrome type 1.
|
20844544 |
2010 |
Usher Syndrome, Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Of the at least six different loci for USH1, USH1B maps on chromosome 11q13, and the MYO7A gene has been shown to be defective in USH1B.
|
10094549 |
1999 |
Usher Syndrome, Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Therefore, we concluded that the USH1 in this family was caused by compound heterozygous mutations in MYO7A.
|
25080338 |
2014 |
Usher Syndrome, Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The five genes currently known to cause USH1 (MYO7A, USH1C, CDH23, PCDH15, and USH1G) were tested for.
|
16679490 |
2006 |
Usher Syndrome, Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Six mutations in MYO7A were found in five patients, including two novel mutations c.397C > G (His133Asp) and 1244-2A > G (Glu459Stop), accounting for 42% of our USH1 patients.
|
15823922 |
2005 |
Usher Syndrome, Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients.
|
8900236 |
1996 |
Usher Syndrome, Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
After MYO7A mutation analysis, the patient was diagnosed with RP, and therefore, also diagnosed with USH1.
|
23237960 |
2013 |
Usher Syndrome, Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Molecular diagnosis in Usher syndrome type 1 and 2 patients led to the identification of 21 sequence variations located in noncanonical positions of splice sites in MYO7A, CDH23, USH1C, and USH2A genes.
|
20052763 |
2010 |
Usher Syndrome, Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Novel and recurrent MYO7A mutations in Usher syndrome type 1 and type 2.
|
24831256 |
2014 |
Usher Syndrome, Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Of three different genes responsible for USH1.USH1B maps to 11q13.5 (ref.
|
7870171 |
1995 |
Usher Syndrome, Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I.
|
16470552 |
2006 |
Usher Syndrome, Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Identification of a novel MYO7A mutation in Usher syndrome type 1.
|
29416772 |
2018 |
Usher Syndrome, Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Primers covering the complete myosin VIIA coding sequence as well as the 3' non coding sequence were designed, allowing direct sequence analysis of each of the 48 coding exons and flanking splice sites in seven patients affected by USH1.
|
9002678 |
1997 |
Usher Syndrome, Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Based on clinical findings, it was also highly likely that one patient with MYO7A mutations possessed USH1 due to a late onset age of walking.
|
26791358 |
2016 |
Usher Syndrome, Type I
|
1.000 |
Biomarker
|
disease |
BEFREE |
Usher syndrome type I (US1) is an autosomal recessive condition in which three different genes have been already localised (USH1A, USH1B, and USH1C on chromosomes 14q32, 11q13, and 11p15 respectively).
|
8825055 |
1996 |
Usher Syndrome, Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Targeted next generation sequencing identified a novel mutation in MYO7A causing Usher syndrome type 1 in an Iranian consanguineous pedigree.
|
29287847 |
2018 |
Usher Syndrome, Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Many disease-causative mutations have been identified in MYO7A and USH2A genes, which play a major role in Usher syndrome type I and type II, respectively.
|
20497194 |
2011 |
Usher Syndrome, Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In this study, 66 unrelated patients with USH1 were evaluated for defects in MYO7A using single-strand conformation polymorphism analysis and direct genomic sequencing.
|
10930322 |
2000 |
Usher Syndrome, Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In this study, we identified two novel mutations, c.3742G>A (p.E1248K) and c.6051+1G>A (donor splice site mutation in intron 44), of MYO7A in a Chinese non-consanguineous family with USH1.
|
23559863 |
2013 |