|
Cryptophthalmos syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We note severe brachydactyly is a manifestation of Fraser syndrome and found a novel homozygous splice site variation c.3293-2A>T in FRAS1.
|
27624506 |
2017 |
|
Cryptophthalmos syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In humans, mutations in FRAS1 cause Fraser Syndrome (FS), a pleiotropic condition with many clinical presentations such as limb, eye, kidney, and craniofacial deformations.
|
26813283 |
2016 |
|
Cryptophthalmos syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
It overlaps clinically with Fraser syndrome (FS; OMIM 219000), which is known to be caused by mutations in either FRAS1, FREM2, or GRIP1, encoding components of a protein complex that plays a role in epidermal-dermal interactions during morphogenetic processes.
|
24115501 |
2013 |
|
Cryptophthalmos syndrome
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
Here we report the first case of a family with two patients affected by Fraser syndrome due to a deletion of 64 kb (deletion 4q21.21) and an additional novel frameshift mutation in exon 66 of the FRAS1 gene.
|
23473829 |
2013 |
|
Cryptophthalmos syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here we report the first case of a family with two patients affected by Fraser syndrome due to a deletion of 64 kb (deletion 4q21.21) and an additional novel frameshift mutation in exon 66 of the FRAS1 gene.
|
23473829 |
2013 |
|
Cryptophthalmos syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Thus far, mutations in FRAS1 and FREM2 have been identified as cause of FS.
|
22510445 |
2012 |
|
Cryptophthalmos syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Deficiency of the extracellular matrix molecule FRAS1, normally expressed by the ureteric bud, leads to bilateral renal agenesis in humans with Fraser syndrome and blebbed (Fras1(bl/bl)) mice.
|
23064016 |
2012 |
|
Cryptophthalmos syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Lesions in the epithelially expressed human gene FRAS1 cause Fraser syndrome, a complex disease with variable symptoms, including facial deformities and conductive hearing loss.
|
22782724 |
2012 |
|
Cryptophthalmos syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Recessive truncating mutations in FRAS1 and FREM2 were known to cause Fraser syndrome in humans and mice; however, a phenotype in heterozygous carriers has not been described.
|
21900877 |
2012 |
|
Cryptophthalmos syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Recently, a novel group of basement membrane proteins, Fras1 (Fraser syndrome protein (1) and the Fras1-related extracellular matrix proteins Frem1, Frem2 and Frem3, has emerged.
|
21182980 |
2011 |
|
Cryptophthalmos syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The milder phenotypes associated with FREM1 deficiency in humans (MOTA syndrome and BNAR syndrome) compared to that resulting from FRAS1 and FREM2 loss of function (Fraser syndrome) are also consistent with the less severe phenotypes resulting from Frem1 loss of function in mice.
|
21507892 |
2011 |
|
Cryptophthalmos syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
FS is considered to be the human equivalent of the murine blebbing mutants: in the mouse mutations at five loci cause a phenotype that is comparable to FS in humans, and thus far mutations in two syntenic human genes, FRAS1 and FREM2, have been identified to cause FS.
|
18671281 |
2008 |
|
Cryptophthalmos syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Molecular diagnostic studies of the index case failed to identify one of the known gene mutations in the FRAS1 and FREM2 genes associated with Fraser syndrome.
|
17990920 |
2008 |
|
Cryptophthalmos syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
The Fras1/Frem family of extracellular matrix proteins: structure, function, and association with Fraser syndrome and the mouse bleb phenotype.
|
18661360 |
2008 |
|
Cryptophthalmos syndrome
|
1.000 |
Biomarker
|
disease |
CTD_human |
Extensive studies on mRNA expression indicated that this mutation most likely leads to loss of function as most previously reported FRAS1 mutations associated with FS.
|
17163535 |
2007 |
|
Cryptophthalmos syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Extensive studies on mRNA expression indicated that this mutation most likely leads to loss of function as most previously reported FRAS1 mutations associated with FS.
|
17163535 |
2007 |
|
Cryptophthalmos syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We have screened two patients who fulfilled the diagnostic criteria for Fraser syndrome and three patients with related phenotypes (two patients with Manitoba oculotrichoanal syndrome and one patient with unilateral cryptophthalmos and labial fusion) for mutations in FRAS1 to increase the molecular genetic data in patients with Fraser syndrome and related conditions.
|
16894541 |
2006 |
|
Cryptophthalmos syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Cryptophthalmos syndrome
|
1.000 |
Biomarker
|
disease |
MGD |
|
|
|
|
Cryptophthalmos syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
FRASER SYNDROME 1
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
De novo mutations in autosomal recessive congenital malformations.
|
27280866 |
2016 |
|
FRASER SYNDROME 1
|
0.400 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Molecular study of 33 families with Fraser syndrome new data and mutation review.
|
18671281 |
2008 |
|
FRASER SYNDROME 1
|
0.400 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Fraser syndrome due to homozygosity for a splice site mutation of FREM2.
|
18203166 |
2008 |
|
FRASER SYNDROME 1
|
0.400 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Fraser and Ablepharon macrostomia phenotypes: concurrence in one family and association with mutated FRAS1.
|
17163535 |
2007 |
|
FRASER SYNDROME 1
|
0.400 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutation analysis of the FRAS1 gene demonstrates new mutations in a propositus with Fraser syndrome.
|
16894541 |
2006 |