OBJECTIVETo detect the MSX1 gene mutation in a Chinese family with oligodontia.

METHODSBlood samples were obtained from seven affected and seven unaffected individuals in the pedigree. All exons and flanking intronic boundaries of the MSX1 gene were amplified with polymerase chain reaction technique and then directly sequenced. The website of bioinformatics was used to predict the effect of the mutation on the function.

RESULTSA splicing mutation (IVS1-2A > G) was found at position -2 near the 3' end of the IVS1 of MSX1, which made a change of the intron 1 splice acceptor site. None of the mutation was found in normal individuals of the family and in 100 unrelated healthy matched control individuals.

CONCLUSIONSIVS1-2A > G was a novel splicing mutation identified in the MSX-1 gene and it might be responsible for nonsyndromic oligodontia in this family.