Table 2.
Bone Phenotype and Plasma Phosphate Levels According to Mutation Status
| Case reports of homozygous mutations | |||
|---|---|---|---|
| Plasma phosphate z score | Rickets | Mutations | |
| Phulwani et al (11) | −2.6 | Yes | g.4225_50del, g.1226G>A |
| Yu et al (12) | −1.3 | Yes | c.560+27_561-38del, c.1046_47del |
| −1.4 | No | ||
| −1.7 | No | ||
| Ichikawa et al (13) | −1.2 | No | c.1304delG, g.1440_1469del |
| Chi et al (14) | −2.6 | Yes | p.G191R, p.R468W |
| Dasgupta et al (15) | −3.9 | No | g.1440_1469del, F453del |
| +0.2 | No | p.S138F, c.1304delG, p.L527del* | |
| +0.2 | No | ||
| +0.1 | No | ||
| −2.6 | No | S192L, g.2615_2699del | |
| −1.5 | No | S192L, c.367delC | |
| Abe et al (16) | −0.8 | No | c.175+1 G>A, p.R412W |
| Rafaelson et al (23) | −1.3 | No | c.757-1G>A, c.925+20_926-48del |
| Dhir et al (17) | −3.5 | No | p.R67G, p.G191S |
| Acar et al (24) | −2.9 | No | c.1335+2T>A, c.1639_1652del |
| −1.1 | No | ||
Abbreviation: NR = not reported.
*Cases had 3 mutations.