A novel MSX1 mutation in hypodontia.
MSX1 mutations have been reported in four unrelated families with autosomal dominant tooth agenesis. In one family, some individuals also had cleft lip and/or palate. We have identified a novel MSX1 mutation (559 C --> T, resulting in Gln187Stop) in three individuals of one family.
De Muynck
S
S
Department of Orthodontics, School of Dentistry, Faculty of Medicine, Catholic University Leuven, Leuven, Belgium.
Schollen
E
E
Matthijs
G
G
Verdonck
A
A
Devriendt
K
K
Carels
C
C
D000848:Anodontia / Q000000981:diagnostic imaging / Q000235:genetics*; D001483:Base Sequence; D002971:Cleft Lip / Q000235:genetics; D002972:Cleft Palate / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D051957:MSX1 Transcription Factor; D008297:Male; D009154:Mutation; D011859:Radiography; D017421:Sequence Analysis
D018398:Homeodomain Proteins; D051957:MSX1 Transcription Factor; C484083:MSX1 protein, human