A novel MSX1 intronic mutation associated with autosomal dominant non-syndromic oligodontia in a large Chinese family pedigree.

Jinjie Xue,Qingping Gao,Yanru Huang, Xiaoyu Zhang,Pu Yang,David S Cram,Desheng Liang,Lingqian Wu

Clinica Chimica Acta（2016）

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摘要

•Genetic linkage studies of a four-generation Chinese family with autosomal dominant tooth agenesis•Identification and characterization of a novel intronic MSX1 gene variant as the likely pathogenic mutation•Functional studies suggesting that the mutation reduces the basal level of mature MSX1 mRNA

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关键词

Tooth agenesis,Permanent teeth,Genome-wide scan,Short tandem repeat,Intronic mutation,MSX1 homeobox gene

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