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Arch Oral Biol. 2014 Mar;59(3):349-53. doi: 10.1016/j.archoralbio.2013.12.009. Epub 2013 Dec 31.

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

Author information

1
Department of Prosthodontics, Peking University School and Hospital of Stomatology, Beijing, China.
2
Department of Prosthodontics, Beijing Stomatology Hospital, Beijing, China.
3
Department of Medical Genetics, Peking University Health Science Center, Beijing, China; Peking University Center for Human Disease Genomics, Peking University Health Science Center, Beijing, China.
4
Central Laboratory, Peking University School and Hospital of Stomatology, Beijing, China.
5
Department of Prosthodontics, Peking University School and Hospital of Stomatology, Beijing, China. Electronic address: donghan@bjmu.edu.cn.
6
Department of Prosthodontics, Peking University School and Hospital of Stomatology, Beijing, China. Electronic address: kqfenghl@bjmu.edu.cn.

Abstract

OBJECTIVE:

Oligodontia, which is the congenital absence of six or more permanent teeth excluding third molars, may contribute to masticatory dysfunction, speech alteration, aesthetic problems and malocclusion. To date, mutations in EDA, AXIN2, MSX1, PAX9, WNT10A, EDAR, EDARADD, NEMO and KRT 17 are known to associate with non-syndromic oligodontia. The aim of the study was to search for AXIN2 mutations in 96 patients with non-syndromic oligodontia.

DESIGN:

We performed mutation analysis of 10 exons of the AXIN2 gene in 96 patients with isolated non-syndromic oligodontia.

RESULTS:

We identified two novel missense mutations (Exon 3 c.923C>T and Exon 11 c.2490G>C) in two patients. One mutation (c.923C>T) results in a Thr308Met substitution and the other mutation (c.2490G>C) results in a Met830Ile substitution.

CONCLUSIONS:

This is the first report indicating that mutations in AXIN2 are responsible for oligodontia in the Chinese population. 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.

KEYWORDS:

AXIN2; Mutation screening; Non-syndromic oligodontia

[Indexed for MEDLINE]

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