[A novel mutation of MSX1 gene in a Chinese pedigree with oligodontia].
OBJECTIVE
To detect the MSX1 gene mutation in a Chinese family with oligodontia.


METHODS
Blood 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.


RESULTS
A 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.


CONCLUSIONS
IVS1-2A > G was a novel splicing mutation identified in the MSX-1 gene and it might be responsible for nonsyndromic oligodontia in this family.
Li
Wu-li
WL
Department of Cariology and Endodontology, School of Stomatology, Anhui Medical University, Hefei, China.
Cui
Juan-juan
JJ
Fang
Qiao-yun
QY
Mei
Ling-xuan
LX
D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D002648:Child; D005260:Female; D006801:Humans; D051957:MSX1 Transcription Factor / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D014071:Tooth Abnormalities / Q000235:genetics*; D055815:Young Adult
D051957:MSX1 Transcription Factor; C484083:MSX1 protein, human