Novel missense mutations in the AXIN2 gene associated with non-syndromic oligodontia

Wong, Sing‐Wai; Liu, Haochen; Bai, Baojing; Chang, Huaiguang; Zhao, Hongshan; Wang, Yixiang; Han, Dong; Feng, Hailan

doi:10.1016/j.archoralbio.2013.12.009

Cited by 32 publications

(34 citation statements)

References 25 publications

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“…The second patient (I:11) presented with an AXIN2 missense variant c.2051C > T, p.Ala684Val. Variants in AXIN2 have been reported in patients with CRC and oligodentia and in patients with oligodentia solely [21, 52]. It is suggested that truncating pathogenic variants in AXIN2 are more likely to predispose carriers to syndromic oligodontia and colorectal cancer compared to missense variants [25].…”

Section: Resultsmentioning

confidence: 99%

Expanding the genotype–phenotype spectrum in hereditary colorectal cancer by gene panel testing

et al. 2016

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Hereditary syndromes causing colorectal cancer include both polyposis and non-polyposis syndromes. Overlapping phenotypes between the syndromes have been recognized and this make targeted molecular testing for single genes less favorable, instead there is a gaining interest for multi-gene panel-based approaches detecting both SNVs, indels and CNVs in the same assay. We applied a panel including 19 CRC susceptibility genes to 91 individuals of six phenotypic subgroups. Targeted NGS-based sequencing of the whole gene regions including introns of the 19 genes was used. The individuals had a family history of CRC or had a phenotype consistent with a known CRC syndrome. The purpose of the study was to demonstrate the diagnostic difficulties linked to genotype-phenotype diversity and the benefits of using a gene panel. Pathogenicity classification was carried out on 46 detected variants. In total we detected sixteen pathogenic or likely pathogenic variants and 30 variants of unknown clinical significance. Four of the pathogenic or likely pathogenic variants were found in BMPR1A in patients with unexplained familial adenomatous polyposis or atypical adenomatous polyposis, which extends the genotype-phenotype spectrum for this gene. Nine patients had more than one variant remaining after the filtration, including three with truncating mutations in BMPR1A, PMS2 and AXIN2. CNVs were found in three patients, in upstream regions of SMAD4, MSH3 and CTNNB1, and one additional individual harbored a 24.2 kb duplication in CDH1 intron1.Electronic supplementary materialThe online version of this article (doi:10.1007/s10689-016-9934-0) contains supplementary material, which is available to authorized users.

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Section: Resultsmentioning

confidence: 99%

Expanding the genotype–phenotype spectrum in hereditary colorectal cancer by gene panel testing

et al. 2016

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“…Axin2 mutations have been described in oligodontia [93], [94]. It also reported that three Axin2 gene variants are associated with both hypodontia and oligodontia [95].…”

Section: Human Diseases In Tooth Associated With Mutations Of the Wntmentioning

confidence: 97%

Role of the Wnt signaling molecules in the tooth

Tamura

Nemoto

2016

Japanese Dental Science Review

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SummaryWnt signaling plays a central role in many processes during embryonic development and adult homeostasis. At least 19 types of Wnt ligands, receptors, transducers, transcription factors, and antagonists have been identified in mammals. Two distinct Wnt signaling pathways, the canonical signaling pathway and the noncanonical signaling pathway, have been described. Some Wnt signaling pathway components are expressed in the dental epithelium and mesenchyme during tooth development in humans and mice. Functional studies and experimental analysis of relevant animal models confirm the effects of Wnt signaling pathway on the regulation of developing tooth formation and adult tooth homeostasis. Mutations in some Wnt signaling pathway components have been identified in syndromic and non-syndromic tooth agenesis. This review provides an overview of progress in elucidating the role of Wnt signaling pathway components in the tooth and the resulting possibilities for therapeutic development.

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“…[25][26][27][28][29] In a study of a 4-generation family from Finland, 11 family members had oligodontia, 8 of whom had either CRC or precancerous lesions, attributed to a nonsense mutation in the AXIN2 gene. 25 Other studies also support the association of AXIN2 mutations and oligodontia.…”

Section: Axin2 Mutationsmentioning

confidence: 99%

NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Colorectal, Version 3.2017

Gupta¹,

Provenzale²,

Regenbogen³

et al. 2017

J Natl Compr Canc Netw

147

163

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Novel missense mutations in the AXIN2 gene associated with non-syndromic oligodontia

Cited by 32 publications

References 25 publications

Expanding the genotype–phenotype spectrum in hereditary colorectal cancer by gene panel testing

Expanding the genotype–phenotype spectrum in hereditary colorectal cancer by gene panel testing

Role of the Wnt signaling molecules in the tooth

NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Colorectal, Version 3.2017

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