Identification of a novel missense mutation of MSX1 gene in Chinese family with autosomal-dominant oligodontia.
OBJECTIVE
Oligodontia is defined as the congenital absence of 6 or more permanent teeth excluding the third molar. The occurrence of non-syndromic still remains poorly understood, but in recent years some cases have been reported where mutations or polymorphisms of PAX9 and MSX1 had been associated with non-syndromic oligodontia. The objective of the present work was to study the phenotype and genotype of three generations of a Han Chinese family affected by non-syndromic autosomal-dominant oligodontia.


METHODS
We examined all individuals of the oligodontia family by clinical and radiographic examinations. Based on clinical manifestations, candidate genes MSX1 and PAX9 were picked up to analyse and screen mutations.


RESULTS
Dental evaluation showed that the most commonly missing teeth are the mandibular second premolars, followed by the maxillary second premolars and maxillary lateral incisors, and subsequently the maxillary first premolars. The probability of missing a particular type of tooth is not always bilaterally symmetrical, and differences exist between maxilla and mandible. PCR-SSCP analysis and DNA sequencing revealed a novel missense mutation c.662C>A in a highly conserved homeobox sequence of MSX1 and a known polymorphisms c.347C>G.


CONCLUSIONS
Our finding suggests the missense transversion (c.662C>A) and the polymorphisms (c.347C>G) may be responsible for oligodontia phenotype in this Chinese family.
Xuan
Kun
K
Department of Pediatric Dentistry, School of Stomatology, Fourth Military Medical University, 145 West Changle Road, Xi'an 710032, PR China.
Jin
Fang
F
Liu
Yan-Li
YL
Yuan
Lin-Tian
LT
Wen
Ling-Ying
LY
Yang
Fu-Sheng
FS
Wang
Xiao-Jing
XJ
Wang
Guo-Hua
GH
Jin
Yan
Y
D000293:Adolescent; D000848:Anodontia / Q000000981:diagnostic imaging / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D002648:Child; D004252:DNA Mutational Analysis; D005838:Genotype; D006801:Humans; D051957:MSX1 Transcription Factor / Q000235:genetics*; D008875:Middle Aged; D020125:Mutation, Missense; D051764:PAX9 Transcription Factor / Q000235:genetics*; D010641:Phenotype; D016133:Polymerase Chain Reaction / Q000379:methods; D011859:Radiography; D014070:Tooth / Q000000981:diagnostic imaging
D051957:MSX1 Transcription Factor; D051764:PAX9 Transcription Factor