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Article

A novel non-stop mutation in MSX1 causing autosomal dominant non-syndromic oligodontia.

Mutagenesis - 1 Sept 2014

Wong Sing-Wai, Liu Hao-Chen, Han Dong, Chang Huai-Guang, Zhao Hong-Shan, Wang Yi-Xiang, Feng Hai-Lan

Abstract excerpt

Oligodontia, which is the congenital absence of six or more permanent teeth, excluding the third molars, may contribute to masticatory dysfunction, speech alteration, aesthetic problems and malocclusion. Msh homeobox 1 (MSX1) was the first gene identified as causing non-syndromic oligodontia. In this study, we identified a novel heterozygous non-stop mutation (c.910_911dupTA, p.*304Tyrext*48) in MSX1 in a Chinese...

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Identifiers

PMID: 24914010
DOI: 10.1093/mutage/geu019

Genes

MSX1

Variants

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