Figure 1.
Study subjects and imaging evaluation.
(A) Pedigree of family PJ-IBGC. The proband is indicated by an arrow. Filled symbols represent affected individuals, including both symptomatic (black) and asymptomatic (gray). (B) CT scan of the affected individuals. (C) MRS examination of a 4-year-old girl. I 1: a 54-year-old man; II 1: a 37-year-old woman; II:3: a 24-year-old man; III 1: an 11-year-old girl; III 2: a 4-year-old girl.
Table 1.
Sequences and positions of the primers used for mutation analysis of SLC20A2.
Figure 2.
Identification of the c.510delA SLC20A2 mutation.
(A) Sequencing chromatogram showing the heterozygous c.510delA mutation in SLC20A2 (right) and the wild type sequence (left). (B) Heteroduplex mobility assay of the 171 bp PCR product derived from all the affected individuals and some unrelated normal individuals. After denaturation (95°C), re-annealed reactions were run under non-denaturing conditions. M, 100 bp DNA marker; N, normal individuals. The bands were visualized by silver-staining. (C) Schematic diagram of the wild-type and mutant SLC20A2 proteins. Purple regions represent the L183–V483 fragment of SLC20A2, which are important for the Pi transportation activity. The blue circle indicates the mutated amino acid residue. Amino-acid residues of the novel C-terminal peptides in the p.R172fsX19 mutant are given with the 19 new residues in red. The structure model was drawn using TOPO2 software (http://www.sacs.ucsf.edu/TOPO2/).
Figure 3.
mRNA expression analysis of the SLC20A2 mutation.
(A) Sequencing showing an imbalance of the c.510delA (p.R172fsX19) mutant and wild-type alleles in cDNA templates. (B) Relative quantity (mean ± SD) of SLC20A2 transcripts derived from real-time quantitative polymerase chain reactions in 3 affected individuals and a normal individual.