Desbuquois syndrome
|
0.600 |
GermlineCausalMutation
|
disease |
ORPHANET |
We screened CANT1 and CHST3 in 38 DD cases (6 type 1 patients, 1 Kim variant, and 31 type 2 patients) and found CANT1 mutations in all DD type 1 cases, the Kim variant and in one atypical DD type 2 expanding the clinical spectrum of hand anomalies observed with CANT1 mutations.
|
22539336 |
2012 |
Desbuquois syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
DBQD is classified into two types based on the presence (DBQD1) or absence (DBQD2) of characteristic hand abnormalities.
|
27881841 |
2017 |
Desbuquois syndrome
|
0.600 |
Biomarker
|
disease |
CTD_human |
|
|
|
Desbuquois syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
The MED phenotype is thus allelic to the more severe Desbuquois dysplasia phenotype and the results identify CANT1 as a second locus for recessively inherited MED.
|
28742282 |
2017 |
Desbuquois syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the calcium activated nucleotidase 1 (CANT1) have been found to be responsible for type I and lately, for the Kim type of Desbuquois dysplasia.
|
28462984 |
2017 |
Desbuquois syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We screened CANT1 and CHST3 in 38 DD cases (6 type 1 patients, 1 Kim variant, and 31 type 2 patients) and found CANT1 mutations in all DD type 1 cases, the Kim variant and in one atypical DD type 2 expanding the clinical spectrum of hand anomalies observed with CANT1 mutations.
|
22539336 |
2012 |
Desbuquois syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
In a previous study, we found a CANT1 (for calcium-activated nucleotidase 1) mutation, c.676G>A in five DBQD families.
|
21412251 |
2011 |
Desbuquois syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Catel-Manzke syndrome has overlapping features with Desbuquois dysplasia type 1 due to CANT1 (calcium-activated nucleotidase 1) mutations and also with "chondrodysplasia with joint dislocations, gPAPP type" due to IMPAD1 (Inositol Monophosphatase Domain containing 1) mutations recently reported in four patients, all characterized by short stature, joint dislocations, brachydactyly and cleft palate.
|
22887726 |
2012 |
Desbuquois syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Two genes for DBQD (CANT1 encoding calcium-activated nucleotidase-1 and XYLT1 encoding xylosyltransferase-1) have been reported.
|
30847897 |
2019 |
Desbuquois syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Identification of CANT1 mutations in Desbuquois dysplasia.
|
19853239 |
2009 |
Desbuquois syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the calcium-activated nucleotidase 1 (CANT1) gene have been reported in all three types of DBQD.
|
25486376 |
2015 |
Desbuquois syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Based on the presence of additional hand anomalies, we have previously distinguished DBQD type 1 and identified CANT1 (calcium activated nucleotidase 1) mutations as responsible for DBQD type 1.
|
24581741 |
2014 |
Desbuquois syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Mutation of CANT1 causes Desbuquois dysplasia.
|
20425819 |
2010 |
Desbuquois syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Type 1 Desbuquois dysplasia is caused by mutations in CANT1 and is distinct from Type 2, caused by mutations in XYLT1, in that the former has unique hand anomalies including accessory phalangeal ossification centers, advanced carpal bone maturation, and/or axial phalangeal deviation.
|
31587486 |
2019 |
Desbuquois syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The clinical-radiographic spectrum produced by CANT1 mutations must be extended to include DD type 2 and Kim variant.
|
21037275 |
2011 |