Oligodontia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In this case report we describe a family with c.1972delA, p.Ser658Alafs*31 nonsense variant in AXIN2 where the three confirmed carriers presented with both oligodontia and colorectal adenomatous polyposis; mean number of teeth missing in carriers was 16.5 (range 11-22) and mean number of polyps in carriers was 49 (range 5->100, polyps were predominantly adenomatous).
|
30671715 |
2019 |
Oligodontia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We analysed this novel AXIN2 mutant, together with two reported AXIN2 mutants [c.1966C>T (p.Arg656Stop) and c.1994delG (p.Leu688Stop)] that cause colorectal cancer with and without oligodontia, to study the effect of the mutant p.His660Tyr on the Wnt/β-catenin signaling pathway and to compare the molecular pathogenesis of different AXIN2 mutants in tooth agenesis and carcinogenesis.
|
27090353 |
2016 |
Oligodontia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The findings suggest that the c.956+16A>G, c.1365A>G and c.1200+71A>G mutations of AXIN2 may be responsible for the oligodontia phenotype in this family, but these findings require further study.
|
25377791 |
2015 |
Oligodontia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Our study supports the relationship between AXIN2 mutation and non-syndromic oligodontia and extends the mutation spectrum of the AXIN2 gene.
|
26406231 |
2015 |
Oligodontia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous, germline nonsense mutations in AXIN2 have been reported in two families with oligodontia and colorectal cancer (CRC) predisposition, including an AXIN2 1989G>A mutation.
|
26025668 |
2015 |
Oligodontia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Our findings indicate that AXIN2 can be regarded as a candidate gene for mutation detection in individuals with non-syndromic oligodontia in the Chinese population.
|
24581859 |
2014 |
Oligodontia
|
0.500 |
Biomarker
|
disease |
BEFREE |
To date, more than 300 genes have been found to be involved in tooth development, but only a few of these genes, such as MSX1, PAX9 and AXIN2, are related to the condition of non-syndromic oligodontia.
|
23731659 |
2013 |
Oligodontia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Sequence analysis of PAX9, MSX1 and AXIN2 genes in a Chinese oligodontia family.
|
21530942 |
2011 |
Oligodontia
|
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 |
Oligodontia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Previous authors have described an unrelated family with autosomal dominant oligodontia and a variable colorectal phenotype segregating with a nonsense mutation of AXIN2, as well as a frameshift AXIN2 mutation in an unrelated individual with oligodontia.
|
21416598 |
2011 |
Oligodontia
|
0.500 |
Biomarker
|
disease |
BEFREE |
Of particular interest is AXIN2, which was linked to two families segregating oligodontia and colorectal cancer.
|
18790474 |
2009 |
Oligodontia
|
0.500 |
Biomarker
|
disease |
BEFREE |
Genes affecting early tooth development (PAX9, MSX1, and AXIN2) are associated with familial tooth agenesis or oligodontia.
|
17552940 |
2007 |
Oligodontia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Considering the discrepancy between the high incidence rate of agenesis and the relatively small number of reported causative mutations in PAX9, MSX1 and AXIN2 genes, the genetic contribution to oligodontia probably is much more heterogeneous than expected so far.
|
16918677 |
2006 |
Oligodontia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Our findings suggest that AXIN2 polymorphic variants may be associated with both hypodontia and oligodontia.
|
16432638 |
2006 |
Oligodontia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We show that oligodontia and predisposition to cancer are caused by a nonsense mutation, Arg656Stop, in the Wnt-signaling regulator AXIN2.
|
15042511 |
2004 |
Oligodontia
|
0.500 |
Biomarker
|
disease |
HPO |
|
|
|
Oligodontia
|
0.500 |
GermlineCausalMutation
|
disease |
ORPHANET |
|
|
|
Oligodontia
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
|
|
|