DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder)
|
0.610 |
Biomarker
|
disease |
BEFREE |
Deafness, autosomal recessive 77 (DFNB77) is a rare non-syndromic hearing loss (NSHL) worldwide, which is caused by deleterious variants within lipoxygenase homology domains 1 (LOXHD1).
|
30760222 |
2019 |
DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder)
|
0.610 |
GeneticVariation
|
disease |
CLINVAR |
Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation.
|
27959697 |
2017 |
DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder)
|
0.610 |
GeneticVariation
|
disease |
CLINVAR |
Mutations in LOXHD1 gene cause various types and severities of hearing loss.
|
25792669 |
2015 |
DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder)
|
0.610 |
GeneticVariation
|
disease |
CLINVAR |
Disease variants in genomes of 44 centenarians.
|
25333069 |
2014 |
DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder)
|
0.610 |
GeneticVariation
|
disease |
CLINVAR |
PECONPI: a novel software for uncovering pathogenic copy number variations in non-syndromic sensorineural hearing loss and other genetically heterogeneous disorders.
|
23897863 |
2013 |
DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder)
|
0.610 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in LOXHD1, a recessive-deafness locus, cause dominant late-onset Fuchs corneal dystrophy.
|
22341973 |
2012 |
DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder)
|
0.610 |
GeneticVariation
|
disease |
CLINVAR |
Prediction of cochlear implant performance by genetic mutation: the spiral ganglion hypothesis.
|
22975204 |
2012 |
DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder)
|
0.610 |
GeneticVariation
|
disease |
CLINVAR |
Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss.
|
23226338 |
2012 |
DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder)
|
0.610 |
GeneticVariation
|
disease |
CLINVAR |
A deleterious mutation in the LOXHD1 gene causes autosomal recessive hearing loss in Ashkenazi Jews.
|
21465660 |
2011 |
DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder)
|
0.610 |
CausalMutation
|
disease |
CLINVAR |
A deleterious mutation in the LOXHD1 gene causes autosomal recessive hearing loss in Ashkenazi Jews.
|
21465660 |
2011 |
DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder)
|
0.610 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder)
|
0.610 |
Biomarker
|
disease |
CTD_human |
|
|
|
hearing impairment
|
0.320 |
Biomarker
|
phenotype |
BEFREE |
Our findings expand the genotypic and phenotypic spectrum of DFNB77, but a clear correlation between the type or location of the variant and the severity or progression of HI could not be established.
|
29676012 |
2018 |
hearing impairment
|
0.320 |
GeneticVariation
|
phenotype |
BEFREE |
These cases showed less severe hearing impairment than the previously reported cases carrying LOXHD1 mutations, but their hearing loss appeared to be progressive.
|
26973026 |
2016 |
hearing impairment
|
0.320 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
Mutations in LOXHD1, a recessive-deafness locus, cause dominant late-onset Fuchs corneal dystrophy.
|
22341973 |
2012 |
Nonsyndromic Deafness
|
0.310 |
Biomarker
|
disease |
CLINGEN |
Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.
|
26969326 |
2016 |
Nonsyndromic Deafness
|
0.310 |
GeneticVariation
|
disease |
BEFREE |
The two sisters, who had either mild or severe high-frequency hearing loss, were compound heterozygous for two novel mutations (c.5674G>T [p.V1892F] and c.4212+1G>A) in LOXHD1, which is responsible for autosomal-recessive nonsyndromic hearing loss DFNB77.
|
26973026 |
2016 |
Nonsyndromic Deafness
|
0.310 |
Biomarker
|
disease |
CLINGEN |
A deleterious mutation in the LOXHD1 gene causes autosomal recessive hearing loss in Ashkenazi Jews.
|
21465660 |
2011 |
Nonsyndromic Deafness
|
0.310 |
Biomarker
|
disease |
CLINGEN |
Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans.
|
19732867 |
2009 |
Polybrominated biphenyl measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Independent Maternal and Fetal Genetic Effects on Midgestational Circulating Levels of Environmental Pollutants.
|
28235828 |
2017 |
Deafness
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Sensorineural hearing loss, bilateral
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Fuchs Endothelial Dystrophy
|
0.040 |
Biomarker
|
disease |
BEFREE |
To assess the occurrence and diagnostic performance of nine single-nucleotide variants (SNVs) in the TCF4, SLC4A11, LOXHD1, and AGBL1 genes and the CTG18.1 trinucleotide repeat expansion in a Russian cohort of Fuchs' endothelial corneal dystrophy (FECD) patients.
|
30267097 |
2018 |
Fuchs Endothelial Dystrophy
|
0.040 |
GeneticVariation
|
disease |
BEFREE |
In the experimental study, coding regions of ZEB1 and LOXHD1 were screened by Sanger DNA sequencing in 52 late-onset and 5 early-onset FECD cases of Indian origin, recruited at a tertiary eye care center.
|
29799290 |
2018 |
Fuchs Endothelial Dystrophy
|
0.040 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous deleterious missense variants in LOXHD1 have been associated with late-onset Fuchs corneal dystrophy (FCD).
|
29676012 |
2018 |