From: FGF23 and its role in X-linked hypophosphatemia-related morbidity
Name | Mutation size and type | Exon(s) affected | Phex-specific | Serum FGF23 | Serum phosphate | Osteomalacia/ rickets/short stature | Craniofacial abnormalities | Hearing loss | References |
---|---|---|---|---|---|---|---|---|---|
Gy | Deletion (160-190 kb) | UTR+1-3 | N | ↑ | ↓ | Y | N | Y | [73] |
Hyp | Deletion (58 kb) | 15-22+UTR | N | ↑ | ↓ | Y | Y | N | [71] |
Hyp-Duk | Deletion (30 kb) | 13-14 | Y | ↑ | ↓ | Y | Y | Y | [62] |
Hyp-2J | Deletion (7.3 kb) | 15 | Y | ↑ | ↓ | Y | Y | N | [62] |
Ska1 | Point mutation (1 bp) | 8 | Y | ↑ | ↓ | Y | ? | ? | [75] |
Jrt | Point mutation (1 bp) | 14 | Y | ↑ | ↓ | Y | ? | ? | [76] |