|
Brachydactyly type C
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
CDMP1 gene mutations have been associated with Grebe syndrome, Hunter-Thompson syndrome, Du Pan syndrome and brachydactyly type C. The proband is a 4-year-old boy, born of consanguineous Pakistani parents.
|
26275437 |
2016 |
|
Brachydactyly type C
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
In this paper, we report two children with novel homozygous missense mutations in the GDF5 gene associated with brachydactyly type C: one mutation was within the region coding for the prodomain (c.608C > A, which predicts p.Thr203Asn) and the other was within the region coding for the active domain (c.1456 G > A, which predicts p.Val486Met).
|
25820810 |
2015 |
|
Brachydactyly type C
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Owing to reduced activity of GDF5(G319V) in our functional assays, p.Gly319Val might be causative for BDC, but typically evoke an unrecognizably mild phenotype or even nonpenetrance.
|
25994865 |
2015 |
|
Brachydactyly type C
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In this paper, we report two children with novel homozygous missense mutations in the GDF5 gene associated with brachydactyly type C: one mutation was within the region coding for the prodomain (c.608C > A, which predicts p.Thr203Asn) and the other was within the region coding for the active domain (c.1456 G > A, which predicts p.Val486Met).
|
25820810 |
2015 |
|
Brachydactyly type C
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Molecular analysis of two novel missense mutations in the GDF5 proregion that reduce protein activity and are associated with brachydactyly type C.
|
25092592 |
2014 |
|
Brachydactyly type C
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Molecular analysis of two novel missense mutations in the GDF5 proregion that reduce protein activity and are associated with brachydactyly type C.
|
25092592 |
2014 |
|
Brachydactyly type C
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
BDC is a rare genetic condition associated with the GDF5 gene, and this condition has not been confirmed by genetic analysis so far in the Korean population.
|
23483675 |
2013 |
|
Brachydactyly type C
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
To search for potential phenotypic modifiers regulating secretion of GDF5, we compared cells overexpressing wild type (Wt) GDF5 and GDF5 with a novel mutation in the prodomain identified in a large Pakistani family with Brachydactyly type C and mild Grebe type chondrodyslplasia (c527T>C; p.Leu176Pro).
|
23812741 |
2013 |
|
Brachydactyly type C
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
We report here a Mexican patient with BDC and clinical features of ASPED who carries a novel mutation in CDMP1, confirming that BDC and ASPED are part of the CDMP1 mutational spectrum.
|
22828468 |
2012 |
|
Brachydactyly type C
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We report here a Mexican patient with BDC and clinical features of ASPED who carries a novel mutation in CDMP1, confirming that BDC and ASPED are part of the CDMP1 mutational spectrum.
|
22828468 |
2012 |
|
Brachydactyly type C
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In one family affected with BDC, we identified a novel nonsense mutation, c.1461T > G (p.Y487X), which is predicted to truncate the GDF5 precursor protein by deleting 15 amino acids at its C-terminus.
|
18283415 |
2008 |
|
Brachydactyly type C
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous missense mutations in the serine-threonine kinase receptor BMPR1B result typically in brachydactyly type A2 (BDA2), whereas mutations in the corresponding ligand GDF5 cause brachydactyly type C (BDC).
|
16957682 |
2006 |
|
Brachydactyly type C
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous mutations of the cartilage derived morphogenetic protein-1 (CDMP1) resulting in a loss of function have been reported in BDC.
|
14735582 |
2004 |
|
Brachydactyly type C
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Heterozygous mutations of the cartilage derived morphogenetic protein-1 (CDMP1) resulting in a loss of function have been reported in BDC.
|
14735582 |
2004 |
|
Brachydactyly type C
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Phenotypic variation in BDC has previously been attributed either to locus heterogeneity or to the varied functional effects of different CDMP-1 mutations.
|
12567410 |
2003 |
|
Brachydactyly type C
|
1.000 |
Biomarker
|
disease |
BEFREE |
These data support the hypothesis that BDC results from functional haploinsufficiency for GDF5.
|
12357473 |
2002 |
|
Brachydactyly type C
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
These data support the hypothesis that BDC results from functional haploinsufficiency for GDF5.
|
12357473 |
2002 |
|
Brachydactyly type C
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A severe autosomal recessive acromesomelic dysplasia, the Hunter-Thompson type, and comparison with the Grebe type.
|
2703235 |
1989 |
|
Brachydactyly type C
|
1.000 |
Biomarker
|
disease |
MGD |
|
|
|
|
Brachydactyly type C
|
1.000 |
Biomarker
|
disease |
HPO |
|
|
|
|
Brachydactyly type C
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
Brachydactyly type C
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Brachydactyly type C
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Brachydactyly type C
|
1.000 |
Biomarker
|
disease |
CTD_human |
|
|
|