Table 1.
Candidate Genes Studied
Figure 1.
Protein Comparisons of the Available Gene Orthologs for GLI2 S1213Y and SPRY2 D20A
GLI2 S1213Y (A) and SPRY2 D20A (B): Green bars indicate degree of conservation in each site. Amino acids in red indicate the mutation sites. All mutation comparisons are available as supplemental material at http://genetics.uiowa.edu/publications.html.
Figure 2.
Family Pedigree of the Filipino Family Segregating the MSX1 P147Q Mutation
PP (proline–proline) indicates the wild-type genotype. PQ (proline–glutamine) indicates the genotype of the individuals carrying the mutation.
Figure 3.
Family Pedigree of the Filipino Proband with the LHX8 E221A Mutation
The segregation pattern of the mutation is not consistent with a simple Mendelian model for the disease.
EE (glutamic acid–glutamic acid) indicates the wild-type genotype. EA (glutamic acid–alanine) indicates the genotype of the individuals carrying the mutation.
Table 2.
Summary of Variants Found by Direct Sequence
Table 3.
Potential Mutations Found in the Present Study