|
Split-Hand/Foot Malformation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Split-hand/foot malformation (SHFM) is caused by mutations in TP63, DLX5, DLX6, FGF8, FGFR1, WNT10B, and BHLHA9.
|
30101460 |
2019 |
|
Split-Hand/Foot Malformation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A novel H208D TP63 mutation in a familial case of ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome without clefting.
|
19663851 |
2009 |
|
Split-Hand/Foot Malformation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation (c.1010G>T; p.R337L) in TP63 as a cause of split-hand/foot malformation with hypodontia.
|
31420900 |
2019 |
|
Split-Hand/Foot Malformation
|
0.100 |
Biomarker
|
disease |
BEFREE |
ADULT syndrome is much less common than the more classical forms of TP63-associated ectodermal dysplasias, such as ectrodactyly-ectodermal dysplasia-cleft lip/palate (EEC) syndrome and ankyloblepharon-ectodermal defects-cleft lip/palate syndrome.
|
22607287 |
2012 |
|
Split-Hand/Foot Malformation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Anorectal malformation associated with a mutation in the P63 gene in a family with split hand-foot malformation.
|
23736768 |
2013 |
|
Split-Hand/Foot Malformation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Four of the loci were excluded, while in TP63 [tumor protein p63 (SHFM4)], the only known gene responsible for SHFM, we detected in most affected subjects a rare insertion variant (rs34201045) at the alternate promoter used for transcription of the N-terminal-truncated p63 isotype.
|
18515319 |
2008 |
|
Split-Hand/Foot Malformation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Four patients with syndromic ectrodactyly had p63 heterozygous point mutations that affect the DNA binding domain of the protein.
|
14656652 |
2004 |
|
Split-Hand/Foot Malformation
|
0.100 |
Biomarker
|
disease |
BEFREE |
Genetic mapping studies in this family exclude p63 involvement and demonstrate that ectrodactyly in this pedigree is linked to the SHFM3 region on chromosome 10q24.
|
14699611 |
2004 |
|
Split-Hand/Foot Malformation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In this study, we showed that K193E mutation in nine affected individuals of a four-generation kindred with a large degree of phenotypic variability causes four different syndromes or TP63-related disorders: EEC, Ectrodactyly-ectodermal dysplasia (EE), isolated ectodermal dysplasia, and isolated Split Hand/Foot Malformation type 4 (SHFM4).
|
22574117 |
2012 |
|
Split-Hand/Foot Malformation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Individuals with Tumor Protein P63 (TP63)-related disorders are known to present with a range of phenotypic features, including ectrodactyly, ectodermal dysplasia, cleft lip/palate, Rapp-Hodgkin, Hay-Wells, and limb-mammary syndromes.
|
29130604 |
2018 |
|
Split-Hand/Foot Malformation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Interestingly, the human p63 gene is mutated in children who have the disease Ectrodactyly, Ectodermal dysplasia and facial Clefts (EEC) syndrome, and the disease phenotype is similar to the one of p63-deficient mice.
|
10769197 |
2000 |
|
Split-Hand/Foot Malformation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Many of the inherited ectrodactyly syndromes are now known to be due to mutations in the p63 gene.
|
12164578 |
2002 |
|
Split-Hand/Foot Malformation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Moreover, we show that transcription of Dlx3 is abrogated by mutations in the sterile alpha-motif (SAM) domain of p63 that are associated with ankyloblepharon-ectodermal dysplasia-clefting (AEC) dysplasias, but not by mutations found in ectrodactylyectodermal dysplasia-cleft lip/palate (EEC), Limb-mammary syndrome (LMS) and split hand-foot malformation (SHFM) dysplasias.
|
17164413 |
2007 |
|
Split-Hand/Foot Malformation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in TP63 at the SHFM4 locus are known to underlie both syndromic and non-syndromic forms SHFM, but the causes of most non-syndromic SHFM cases remain unknown.
|
16761290 |
2006 |
|
Split-Hand/Foot Malformation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in p63 can also cause non-syndromic single malformations, such as split hand foot malformation (SHFM4) and isolated cleft lip (NSCL).
|
17224651 |
2007 |
|
Split-Hand/Foot Malformation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the p63 gene have recently been delineated as the molecular basis for some cases of the ectrodactyly, ectodermal dysplasia and cleft lip/palate (EEC) syndrome, an autosomal dominant disorder (MIM 129900).
|
11012604 |
2000 |
|
Split-Hand/Foot Malformation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the p63 gene are found in a number of human syndromes, including ectrodactyly-ectodermal dysplasia-cleft lip/palate (EEC) syndrome, limb-mammary syndrome (LMS), Hay-Wells syndrome and in non-syndromic split-hand/split-foot malformation (SHFM).
|
11929852 |
2002 |
|
Split-Hand/Foot Malformation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the p63 DNA-binding domain are associated with ectrodactyly, ectodermal dysplasia, and cleft lip/palate (EEC) syndrome.
|
30566872 |
2018 |
|
Split-Hand/Foot Malformation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Novel mutation in TP63 associated with ectrodactyly ectodermal dysplasia and clefting syndrome and T cell lymphopenia.
|
23613309 |
2013 |
|
Split-Hand/Foot Malformation
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Rapp-Hodgkin Syndrome (RHS) is a genetic disorder resulting from mutations in the TP63 gene encoding p63 transcription factor. p63 is directly associated with a cis-regulatory element on chromosome 7q21 that controls the expression of DLX5 and DLX6 genes which are involved in craniofacial abnormalities and ectrodactyly or split hand/foot malformation (SHFM).
|
22342398 |
2012 |
|
Split-Hand/Foot Malformation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Several ectodermal dysplasia syndromes, including Ectrodactyly-Ectodermal dysplasia-Clefting (EEC) and Ankyloblepharon-Ectodermal Dysplasia-Clefting (AEC) syndromes, are known to result from mutations in the p63 gene.
|
12766194 |
2003 |
|
Split-Hand/Foot Malformation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Split hand/split foot malformation (SHFM; ectrodactyly) is genetically heterogeneous, with mutations identified at five loci (SHFM1 at 7q21.3, SHFM2 at Xq26, SHFM3 at 10q24, SHFM4 at 3q27 and SHFM5 at 2q31).
|
15232212 |
2004 |
|
Split-Hand/Foot Malformation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Subsequent screening of 21 syndromic and nonsyndromic SHFM patients (TP73L mutation negative) for rearrangements using Multiplex Ligation-dependent Probe Amplification did not detect other deletions or duplications in chromosome 19.
|
19353584 |
2009 |
|
Split-Hand/Foot Malformation
|
0.100 |
Biomarker
|
disease |
BEFREE |
The p63 gene has been described in five overlapping limb malformation syndromes including the EEC syndrome (ectodermal ectrodactyly clefting).
|
17041931 |
2006 |
|
Split-Hand/Foot Malformation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
These phenotypes resemble human malformations and in this review we describe the underlying mechanisms and clinical associations of split hand/foot malformation and ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome, which have both been associated with mutations in the p63 gene.
|
11595015 |
2001 |