|
Hypodontia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The affected female showed homogeneous hypotrichosis and oligodontia as previously observed in bovine EDAR homozygous and EDA hemizygous mutants.
|
31533624 |
2019 |
|
Hypodontia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Genetic variations in genes known to be associated with EDs that affect only one derivative of the ectoderm (attenuated phenotype) will be grouped as non-syndromic traits of the causative gene (e.g., non-syndromic hypodontia or missing teeth associated with pathogenic variants of EDA "ectodysplasin").
|
30703280 |
2019 |
|
Hypodontia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
<b>Background</b> X-linked hypohidrotic ectodermal dysplasia (XLHED), the most common form of ectodermal dysplasia, is caused by mutations in the gene <i>EDA.</i> While only affected men develop the full-blown clinical picture, females who are heterozygous for an <i>EDA</i> mutation often also show symptoms such as hypodontia, hypotrichosis and hypohidrosis.
|
28553001 |
2017 |
|
Hypodontia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The objective of the present study was to search for Msh homeobox 1 (MSX1), paired box gene 9 (PAX9), ectodysplasin‑A (EDA) and axis inhibition protein 2 (AXIN2) variants in a family with isolated oligodontia and analyse the pathogenesis of mutations that result in oligodontia phenotypes.
|
25377791 |
2015 |
|
Hypodontia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This study broadens the mutational spectrum of the EDA gene and the understanding of X-linked oligodontia with curly hair.
|
24487376 |
2014 |
|
Hypodontia
|
0.500 |
Biomarker
|
disease |
BEFREE |
PAX9, MSX1, AXIN2, WNT10A and EDA have been experimentally established for congenitally missing teeth like hypodontia and oligodontia.
|
25203534 |
2014 |
|
Hypodontia
|
0.500 |
Biomarker
|
disease |
BEFREE |
To report the dento-craniofacial phenotype of a family affected by a WNT10A HED and to describe the implant-based oral rehabilitation of a patient presenting a severe oligodontia linked to this mutation.
|
24702986 |
2014 |
|
Hypodontia
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Oligodontia and curly hair occur with ectodysplasin-a mutations.
|
24487376 |
2014 |
|
Hypodontia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We have screened for mutations in EDAR (commonly involved in the hypohidrotic form) and WNT10A (involved in a wide spectrum of ED and in isolated hypodontia) in a cohort of 36 patients referred for EDA molecular screening, which failed to identify any mutation.
|
23401279 |
2013 |
|
Hypodontia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
These findings may aid in the discovery of unidentified functionally significant mutation sites in the EDA gene and provide a new way to clarify the mechanisms by which the XLHED and NSH phenotypes arise from mutations in the same gene.
|
23625373 |
2013 |
|
Hypodontia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Digenic mutations of both WNT10A and EDA were identified in 2 of 88 (2.27%) isolated oligodontia cases and 4 of 26 (15.38%) syndromic tooth agenesis cases.
|
24312213 |
2013 |
|
Hypodontia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Oligodontia as well as hypodontia (lack of one or more permanent teeth) are highly heritable conditions associated with mutations in the AXIN2, MSX1, PAX9, EDA, and EDAR genes.
|
21626677 |
2011 |
|
Hypodontia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Previous studies have indicated that mutations in the homeobox gene MSX1, paired domain transcription factor PAX9, and EDA are associated with non-syndromic oligodontia.
|
21098475 |
2011 |
|
Hypodontia
|
0.500 |
Biomarker
|
disease |
BEFREE |
A mutation identified in this study extends the body of evidence implicating the EDA gene in X-linked nonsyndromic hypodontia and supports the role of EDA-EDAR-EDARADD signaling in the morphogenesis of teeth.
|
21091672 |
2010 |
|
Hypodontia
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Functional analysis of Ectodysplasin-A mutations causing selective tooth agenesis.
|
19623212 |
2010 |
|
Hypodontia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A genetic defect in the EDA gene could result in non-syndromic oligodontia in affected males.
|
19278982 |
2009 |
|
Hypodontia
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
EDA gene mutations underlie non-syndromic oligodontia.
|
19278982 |
2009 |
|
Hypodontia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In this study, a novel EDA mutation (Thr338Met) that results in X-linked non-syndromic hypodontia in a Chinese family was identified.
|
18657636 |
2009 |
|
Hypodontia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In few cases mutations in the EDA gene have been found to result in X-linked recessive isolated hypodontia.
|
19551394 |
2009 |
|
Hypodontia
|
0.500 |
Biomarker
|
disease |
BEFREE |
From our findings, we suggest that the mutation disturbs but does not destroy the EDA structure, resulting in the partial and unusually mild ED phenotype restricted to hypodontia.
|
18688569 |
2008 |
|
Hypodontia
|
0.500 |
Biomarker
|
disease |
BEFREE |
Our data further confirm that EDA mutations could cause both XLHED and isolated hypodontia and provide evidence that EDA is a strong candidate gene for tooth genesis.
|
18821982 |
2008 |
|
Hypodontia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Phenotypic dental markers of heterozygous females for EDA gene mutation-moderate oligodontia, conical incisors, and delayed dental eruption-are important for individuals giving reliable genetic counseling.
|
19029074 |
2008 |
|
Hypodontia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A novel missense mutation of the EDA gene in a Mongolian family with congenital hypodontia.
|
16583127 |
2006 |
|
Hypodontia
|
0.500 |
Biomarker
|
disease |
HPO |
|
|
|
|
Hypodontia
|
0.500 |
GermlineCausalMutation
|
disease |
ORPHANET |
|
|
|