Muenke Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Muenke syndrome (MIM #602849), the most common syndromic craniosynostosis, results from the recurrent pathogenic p.P250R variant in FGFR3.
|
31111620 |
2019 |
Muenke Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We also identified an FGFR2 p.Ser252Leu mutation in a phenotypically normal father of a daughter with CS, and an FGFR3 p.Pro250Arg mutation in a mildly macrocephalic father of sisters with MS.
|
27683237 |
2017 |
Muenke Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The FGFR3 pathogenic variation p.Pro250Arg responsible for MS was characterized in all probands by PCR-restriction assay; available first-degree relatives (15 parents, 5 siblings) of the confirmed p.Pro250Arg carriers were also tested.
|
27568649 |
2016 |
Muenke Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Phenotypic variability in two families of Muenke syndrome with FGFR3 mutation.
|
24705944 |
2014 |
Muenke Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A familial case of Muenke syndrome. Diverse expressivity of the FGFR3 Pro252Arg mutation--case report and review of the literature.
|
24168007 |
2014 |
Muenke Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Muenke syndrome is an autosomal dominant craniosynostosis syndrome resulting from a defining point mutation in the Fibroblast Growth Factor Receptor3 (FGFR3) gene.
|
23378035 |
2013 |
Muenke Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Muenke syndrome is caused by a single defining point mutation in the fibroblast growth factor receptor 3 (FGFR3) gene.
|
23044018 |
2012 |
Muenke Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
To better understand the pathophysiology of the Muenke syndrome, we present collective findings from several recent studies that have characterized a genetically equivalent mouse model for Muenke syndrome (FgfR3 (P244R)) and compare them with human phenotypes.
|
22872265 |
2012 |
Muenke Syndrome
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
Nosology and classification of genetic skeletal disorders: 2010 revision.
|
21438135 |
2011 |
Muenke Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The associated of FGFR3 mutations with craniosynostosis has been restricted to three mutations, the common p.Pro250Arg in Muenke syndrome, p.Ala391Glu in Crouzon syndrome with acanthosis nigricans, and p.Pro250Leu identified in a family with isolated craniosynostosis.
|
22038757 |
2011 |
Muenke Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Fibroblasts from 10 individuals each with Apert syndrome (FGFR2 substitution S252W), Muenke syndrome (FGFR3 substitution P250R), Saethre-Chotzen syndrome (various mutations in TWIST1) and non-syndromic sagittal synostosis (no mutation detected) were cultured.
|
19755431 |
2010 |
Muenke Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here, we report a familial case of MS in a female patient with a Pro250Arg mutation in exon 7 (IgII-IGIII linker domain) of the FGFR3 gene.
|
20592905 |
2010 |
Muenke Syndrome
|
1.000 |
Biomarker
|
disease |
MGD |
We have used gene targeting to introduce the Muenke syndrome mutation (equivalent to P244R) into the murine Fgfr3 gene.
|
19086028 |
2009 |
Muenke Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We have used gene targeting to introduce the Muenke syndrome mutation (equivalent to P244R) into the murine Fgfr3 gene.
|
19086028 |
2009 |
Muenke Syndrome
|
1.000 |
Biomarker
|
disease |
MGD |
The Muenke syndrome cohort showed significant, but incompletely penetrant, predominantly low-frequency sensorineural hearing loss, and the Fgfr3(P244R) mice showed dominant, fully penetrant hearing loss that was more severe than that in Muenke syndrome individuals, but had the same pattern of relative high-frequency sparing.
|
18818193 |
2009 |
Muenke Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The Muenke syndrome cohort showed significant, but incompletely penetrant, predominantly low-frequency sensorineural hearing loss, and the Fgfr3(P244R) mice showed dominant, fully penetrant hearing loss that was more severe than that in Muenke syndrome individuals, but had the same pattern of relative high-frequency sparing.
|
18818193 |
2009 |
Muenke Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the gene that encodes Fibroblast Growth Factor Receptor 3 (FGFR3) are associated with Achondroplasia (MIM 100800), Hypochondroplasia (MIM 146000), Muenke Syndrome (MIM 602849), Thanatophoric Dysplasia (MIM 187600, MIM 187601) and Lacrimo-Auriculo-Dento-Digital Syndrome (MIM 149730).Here we report a clinical and molecular study in a large cohort of 125 Portuguese patients with these skeletal disorders.
|
19215249 |
2009 |
Muenke Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature.
|
18000976 |
2007 |
Muenke Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature.
|
18000976 |
2007 |
Muenke Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
P250R mutation in the FGFR3 gene also known as Muenke syndrome is associated with coronal craniosynostosis, sensorineural deafness, craniofacial, and digital abnormalities.
|
17103449 |
2006 |
Muenke Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia.
|
16912704 |
2006 |
Muenke Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Hypochondroplasia (HCH) and Muenke syndrome (MS) are caused by mutations on FGFR3 gene.
|
12794698 |
2003 |
Muenke Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Syndrome of coronal craniosynostosis, Klippel-Feil anomaly, and sprengel shoulder with and without Pro250Arg mutation in the FGFR3 gene.
|
11746040 |
2001 |
Muenke Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Sex related expressivity of the phenotype in coronal craniosynostosis caused by the recurrent P250R FGFR3 mutation.
|
9950359 |
1999 |
Muenke Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene.
|
9600744 |
1998 |