title: A novel non-stop mutation in MSX1 causing autosomal dominant non-syndromic oligodontia.
abstract: 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 family with autosomal dominant non-syndromic oligodontia. This novel mutation substitutes the stop codon with a tyrosine residue, potentially adding 48 amino acids to the C-terminus of MSX1. Further in vitro study found that mutant MSX1 could be expressed but had lost its ability to enter the nucleus. This is the first report indicating that a non-stop mutation in MSX1 is responsible for oligodontia. This study broadens the mutation spectrum for MSX1 and provides a new way to clarify the mechanism of MSX1 in tooth agenesis.
authors.affiliation: Department of Prosthodontics, School and Hospital of Stomatology, Peking University, Beijing 100081, China.
authors.forename: Sing-Wai
authors.initials: SW
authors.lastname: Wong
authors.affiliation: Department of Prosthodontics, School and Hospital of Stomatology, Peking University, Beijing 100081, China.
authors.forename: Hao-Chen
authors.initials: HC
authors.lastname: Liu
authors.affiliation: Department of Prosthodontics, School and Hospital of Stomatology, Peking University, Beijing 100081, China.
authors.forename: Dong
authors.initials: D
authors.lastname: Han
authors.affiliation: Department of Prosthodontics, School and Hospital of Stomatology, Peking University, Beijing 100081, China.
authors.forename: Huai-Guang
authors.initials: HG
authors.lastname: Chang
authors.affiliation: Department of Medical Genetics and Peking University Center for Human Disease Genomics, Peking University Health Science Center, Beijing 100191, China and.
authors.forename: Hong-Shan
authors.initials: HS
authors.lastname: Zhao
authors.affiliation: Central Laboratory, School and Hospital of Stomatology, Peking University, Beijing 100081, China. kqwangyx@bjmu.edu.cn.
authors.forename: Yi-Xiang
authors.initials: YX
authors.lastname: Wang
authors.affiliation: Department of Prosthodontics, School and Hospital of Stomatology, Peking University, Beijing 100081, China, kqwangyx@bjmu.edu.cn.
authors.forename: Hai-Lan
authors.initials: HL
authors.lastname: Feng
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D000818:Animals; D000848:Anodontia / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D019556:COS Cells; D002522:Chlorocebus aethiops; D005091:Exons; D005260:Female; D015894:Genome, Human; D006801:Humans; D051957:MSX1 Transcription Factor / Q000235:genetics* / Q000378:metabolism; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D010957:Plasmids / Q000235:genetics
chemical_list: D051957:MSX1 Transcription Factor; C484083:MSX1 protein, human