Hyalinosis, Systemic
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Hyaline fibromatosis syndrome (HFS) is a rare clinical condition in which bi-allelic variants in ANTXR2 are associated with extracellular hyaline deposits.
|
31455396 |
2019 |
Hyalinosis, Systemic
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Two novel mutations in the ANTXR2 gene in a Chinese patient suffering from hyaline fibromatosis syndrome: A case report.
|
30152846 |
2018 |
Hyalinosis, Systemic
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
PurposeTo describe examples of missed pathogenic variants on whole-exome sequencing (WES) and the importance of deep phenotyping for further diagnostic testing.MethodsGuided by phenotypic information, three children with negative WES underwent targeted single-gene testing.ResultsIndividual 1 had a clinical diagnosis consistent with infantile systemic hyalinosis, although WES and a next-generation sequencing (NGS)-based ANTXR2 test were negative.
|
28914269 |
2018 |
Hyalinosis, Systemic
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This information provides insights on genotype-phenotype correlations, identifies a previously unreported mutation in ANTXR2, and improves the understanding of a recurrent mutation in HFS.
|
29801470 |
2018 |
Hyalinosis, Systemic
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A mutation in ANTXR2 (p. Gly116Val) that yielded a diagnosis of HFS was noted.
|
28103792 |
2017 |
Hyalinosis, Systemic
|
0.800 |
Biomarker
|
disease |
BEFREE |
CMG2/ANTXR2 regulates extracellular collagen VI which accumulates in hyaline fibromatosis syndrome.
|
28604699 |
2017 |
Hyalinosis, Systemic
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Molecular diagnostic experience of whole-exome sequencing in adult patients.
|
26633545 |
2016 |
Hyalinosis, Systemic
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Here, the authors present a case of systemic hyalinosis with a heterozygous mutation in CMG2 that resulted in improved survival.
|
26885603 |
2016 |
Hyalinosis, Systemic
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Molecular diagnostic experience of whole-exome sequencing in adult patients.
|
26633545 |
2016 |
Hyalinosis, Systemic
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Infantile systemic hyalinosis in an Iranian family with a mutation in the CMG2/ANTXR2 gene.
|
25754064 |
2015 |
Hyalinosis, Systemic
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Hyaline fibromatosis syndrome is an autosomal recessive disease caused by mutations in ANTXR2, a gene involved in extracellular matrix homeostasis.
|
23554269 |
2013 |
Hyalinosis, Systemic
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Infantile systemic hyalinosis: a case report with a novel mutation.
|
23386947 |
2013 |
Hyalinosis, Systemic
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Identification of 2 novel ANTXR2 mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading system.
|
22383261 |
2012 |
Hyalinosis, Systemic
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Finally, we will describe HFS and the consequences of HFS-associated mutations in CMG2 at the molecular and cellular level.
|
22215446 |
2012 |
Hyalinosis, Systemic
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the ANTXR2 gene can also cause juvenile hyaline fibromatosis (JHF).
|
22300424 |
2012 |
Hyalinosis, Systemic
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Here we describe a patient with juvenile hyaline fibromatosis confirmed by clinical and histopathologic findings, and genetic analysis, which revealed a novel homozygous splice site mutation IVS14+1G→T on exon 14 in anthrax toxin receptor 2 gene.
|
22042284 |
2011 |
Hyalinosis, Systemic
|
0.800 |
Biomarker
|
disease |
BEFREE |
Finally, we show that mutant CMG2 can be rescued in fibroblasts of some patients by treatment with proteasome inhibitors and that CMG2 is then properly transported to the plasma membrane and signalling competent, identifying the ER folding and degradation pathway components as promising drug targets for HFS.
|
21328543 |
2011 |
Hyalinosis, Systemic
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Systemic hyalinosis is an autosomal recessive disease that encompasses two allelic syndromes, infantile systemic hyalinosis (ISH) and juvenile hyaline fibromatosis (JHF), which are caused by mutations in the CMG2 gene.
|
19191226 |
2009 |
Hyalinosis, Systemic
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Juvenile hyaline fibromatosis and infantile systemic hyalinosis overlap associated with a novel mutation in capillary morphogenesis protein-2 gene.
|
17284973 |
2007 |
Hyalinosis, Systemic
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Recent studies identified pathogenic mutations in the capillary morphogenesis gene 2 (CMG2) in both ISH and juvenile hyaline fibromatosis (JHF).
|
15725249 |
2005 |
Hyalinosis, Systemic
|
0.800 |
Biomarker
|
disease |
BEFREE |
Recent studies identified pathogenic mutations in the capillary morphogenesis gene 2 (CMG2) in both ISH and juvenile hyaline fibromatosis (JHF).
|
15725249 |
2005 |
Hyalinosis, Systemic
|
0.800 |
Biomarker
|
disease |
BEFREE |
Recently, the causative gene for JHF, capillary morphogenesis protein 2 (CMG2) was identified.
|
16104968 |
2005 |
Hyalinosis, Systemic
|
0.800 |
Biomarker
|
disease |
CTD_human |
Finally, and possibly providing insight into the pathophysiology of these diseases, analysis of fibroblasts derived from patients with JHF or ISH suggests that CMG2 mutations abrogate normal cell interactions with the extracellular matrix.
|
12973667 |
2003 |
Hyalinosis, Systemic
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
We now report the identification of 15 different mutations in the gene encoding capillary morphogenesis protein 2 (CMG2) in 17 families with JHF or ISH.
|
14508707 |
2003 |
Hyalinosis, Systemic
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Finally, and possibly providing insight into the pathophysiology of these diseases, analysis of fibroblasts derived from patients with JHF or ISH suggests that CMG2 mutations abrogate normal cell interactions with the extracellular matrix.
|
12973667 |
2003 |