|
CATARACT 5, MULTIPLE TYPES
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Functional analysis of HSF4 mutations found in patients with autosomal recessive congenital cataracts.
|
24045990 |
2013 |
|
CATARACT 5, MULTIPLE TYPES
|
0.800 |
Biomarker
|
disease |
MGD |
Functional analysis of the Hsf4(lop11) allele responsible for cataracts in lop11 mice.
|
22162625 |
2011 |
|
CATARACT 5, MULTIPLE TYPES
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Novel HSF4 mutation causes congenital total white cataract in a Chinese family.
|
16876512 |
2006 |
|
CATARACT 5, MULTIPLE TYPES
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Mutant DNA-binding domain of HSF4 is associated with autosomal dominant lamellar and Marner cataract.
|
12089525 |
2002 |
|
CATARACT 5, MULTIPLE TYPES
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutant DNA-binding domain of HSF4 is associated with autosomal dominant lamellar and Marner cataract.
|
12089525 |
2002 |
|
CATARACT 5, MULTIPLE TYPES
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
CATARACT 5, MULTIPLE TYPES
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
CATARACT 5, MULTIPLE TYPES
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
CATARACT, MARNER TYPE
|
0.640 |
GeneticVariation
|
disease |
BEFREE |
We aimed to identify the genetic cause of isolated autosomal-dominant lamellar cataract in a five-generation British family.MethodsWhole exome sequencing (WES) was performed on two affected individuals of the family and further validated by direct sequencing in family members.ResultsA novel missense mutation NM_001040667.2:c.190A>G;p.K64E was identified in the DNA-binding-domain of heat-shock transcription factor 4 (HSF4) and found to co-segregate with disease.ConclusionWe have identified a novel mutation in HSF4 in a large British pedigree causing dominant congenital lamellar cataract.
|
29243736 |
2018 |
|
CATARACT, MARNER TYPE
|
0.640 |
GeneticVariation
|
disease |
BEFREE |
Based on the proximity of p.Arg116His to two known mutations in the DNA-binding domain of HSF4, namely, p.Leu114Pro and p.Arg119Cys, which segregate with childhood lamellar cataract, we tested the possibility that this phenotype may have been missed by the ophthalmologist and/or that it did not spread to the visual axis so as to affect vision significantly.
|
24975927 |
2014 |
|
CATARACT, MARNER TYPE
|
0.640 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the DNA binding domain (DBD) of the heat shock transcription factor 4 (HSF4) are known to be associated with early childhood autosomal dominant lamellar cataract.
|
25168898 |
2014 |
|
CATARACT, MARNER TYPE
|
0.640 |
Biomarker
|
disease |
MGD |
Functional analysis of the Hsf4(lop11) allele responsible for cataracts in lop11 mice.
|
22162625 |
2011 |
|
CATARACT, MARNER TYPE
|
0.640 |
GeneticVariation
|
disease |
BEFREE |
Heat-shock transcription factor 4 (HSF4) mutations are associated with autosomal dominant lamellar cataract and Marner cataract.
|
19224648 |
2009 |
|
CATARACT, MARNER TYPE
|
0.640 |
Biomarker
|
disease |
HPO |
|
|
|
|
CATARACT, MARNER TYPE
|
0.640 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Cataract
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In this study, we identified five novel mutations (c.154 T > C in GJA8, c.1152_1153insG in GJA3, c.1804G > C in BFSP1, c.1532C > T in EPHA2, c.356G > A in HSF4) in five Chinese families with hereditary cataracts, respectively.
|
31842807 |
2019 |
|
Cataract
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Whole genome transcriptome analysis (RNA-Seq) on RNA isolated from wildtype larvae and larvae with eye defects that were putative homozygotes for the foxe3 indel variant found significant dysregulation of genes expressed in the lens and eye whose orthologues are associated with cataracts in human patients, including cryba2a, cryba1l1, mipa and hsf4.
|
29713869 |
2018 |
|
Cataract
|
0.400 |
Biomarker
|
disease |
BEFREE |
Transcriptional factor heat shock factor 4 (HSF4) is a cataract-causing gene and plays important roles during lens development.
|
29454088 |
2018 |
|
Cataract
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in heat shock transcription factor 4 (HSF4) have been associated with cataract; however, the mechanisms regarding how mutations in HSF4 cause cataract are still obscure.
|
28981088 |
2017 |
|
Cataract
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Among them, HSF4 mutations have been reported in autosomal dominant, autosomal recessive and age-related forms of cataract.
|
26490182 |
2016 |
|
Cataract
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
These HSF4 mutations were previously identified in families with congenital autosomal recessive cataracts.
|
24045990 |
2013 |
|
Cataract
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Our demonstration that HSF4 cataract causative mutations abrogate the induction of DLAD expression reveals a novel molecular mechanism regarding how HSF4 mutations cause cataractogenesis.
|
23507146 |
2013 |
|
Cataract
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Heat shock transcription factor 4 (HSF4) is related with human autosomal dominant lamellar and Marner cataracts; a T→C transition at nucleotide 348 was found in a large Chinese cataract family.
|
22509099 |
2012 |
|
Cataract
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Yet, this does not occur with cataract causative mutations in HSF4.
|
22587838 |
2012 |
|
Cataract
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The goal of this study was to functionally evaluate the mutant HSF4(lop11) protein and to establish the onset and progression of cataracts in lop11 lenses.
|
22162625 |
2011 |