Table 1.
Summary of published mutations in MSX1 gene.
Fig 1.
Schematic description of nucleotide sequence, mRNA and protein structure of the MSX1.
Light grey colour shows untranslated region (UTR); dark grey colour shows coding sequence (CDS); HD = homeodomain. The hypothetical mutated protein product could be 100 amino acids shorter (203 amino acids) than non-mutant variant of the Msx1 (303 amino acids).
Table 2.
Amino-acid sequence for non-mutant and mutant Msx1 homeodomain used for homology modelling.
Fig 2.
Proband´s tooth and nail phenotype.
(A) Panoramic radiograph of proband Z606. This individual has a total 17 congenitally missing teeth (Agenesis 18, 17, 15, 14, 12, 22, 24, 25, 27, 28, 38, 37, 35, 31, 45, 47, 48). Condition after orthodontic and prosthetic treatment. (B) Nails on hands are in normal shape without any defect. (C) Nails on legs are in normal shape and without defects excepts the fifth finger nail that is hypoplastic.
Table 3.
Summary of missing teeth in family with g.8177G>T nonsense mutation.
Asterisks indicate the missing teeth. The column shows the sum of missing teeth, in parentheses missing teeth plus third molars are given (I…incisors, C…canines, P…premolars, M…molars).
Fig 3.
Pedigree of multigeneration family with oligodontia.
The same g. 8177G>T mutation was observed only in family members with oligodontia (Z606 and Z606B) but not in unaffected relatives (Z606C, Z606D, Z606E, Z606F). The probands’ grandfather’s status was provided by family history only. The probands’ grandmother was unavailable for genotyping.
Fig 4.
Chromatograms obtained from capillary sequencing of exon 2 in MSX1 gene.
In samples Z606 and 606B is g.8177G>T mutation marked as “K” mixed base (G/T), in samples 606C, 606D, 606E, 606F G nucleotide in the 9527th position of the MSX1 gene is indicated. In case of sample Z606F is chromatogram reverse complement.
Fig 5.
Msx1 homeodomains bound to DNA.
(A) Non-mutant Msx1 homeodomain. (B) Mutant Msx1 homeodomain. Homeodomain is visualized as cartoon.