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.
journal_name
Mutagenesisjournal_title
Mutagenesisauthors
Wong SW,Liu HC,Han D,Chang HG,Zhao HS,Wang YX,Feng HLdoi
10.1093/mutage/geu019subject
Has Abstractpub_date
2014-09-01 00:00:00pages
319-23issue
5eissn
0267-8357issn
1464-3804pii
geu019journal_volume
29pub_type
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