From: Identification of six novel variants from nine Chinese families with hypophosphatemic rickets
Family | Patient (age) | Clinical symptoms | Variant gene | Variant type | Variant position | Nucleotide change | Amino acid change | Novelty | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Family 1 | I-2 (32 yr) | Loss of teeth; bone deformity; unable to walk | PHEX | Splicing | Exon 5 | c.591A > G | (p.Gly196Alafs*16) | Reported | ||||||||
 | II-1 (5 yr) | Growth retardation; short stature (− 4.26 SD); Loss of teeth; bone deformity; mental retardation |  |  |  |  |  |  | ||||||||
Family 2 | II-1 | Dental defect; bone deformity; fractures; bone pain; weakness in walking | PHEX | Deletion | Exon 17 | c.1661_1726del | (p.Glu554_Gly575del) | Novel | ||||||||
Family 3 | I-2 | Loss of teeth; bone deformity; short stature (− 7.52 SD) | PHEX | Missense; Nonsense | Exon 9; Exon 9 | c.[980A > G; 1078A > T] | p.[Tyr327Cys; Lys360*] | Novel; Novel | ||||||||
 | II-2 (37 yr) | Loss of teeth; bone deformity; fractures; bone pain; short stature (− 8.64 SD); unable to walk |  |  |  |  |  |  | ||||||||
Family 4 | II-3 (34 yr) | Dental defect; bone deformity; fractures; bone pain | PHEX | Missense | Exon 17 | c.1735G > A | (p.Gly579Arg) | Reported | ||||||||
Family 5 | I-2 | Short stature; mild bone deformity; loss of teeth; bowing; fractures | PHEX | Splicing | Intron 9 | c.1079 + 1G > A | (p.?) | Reported | ||||||||
 | II-1 | Short stature; bone deformity; loss of teeth; bowing; fractures |  |  |  |  |  |  | ||||||||
 | II-3 (35 yr) | Short stature (− 11.10 SD); bone deformity; loss of teeth; bowing; fractures; knee valgus; scoliosis |  |  |  |  |  |  | ||||||||
 | II-5 | Short stature; bone deformity; loss of teeth; bowing; fractures |  |  |  |  |  |  | ||||||||
 | III-1 (10 yr) | Bowing; knee valgus |  |  |  |  |  |  | ||||||||
Family 6 | II-9 | Loss of teeth; bone pain | PHEX | Duplication | Exon 9 | c.1017_1051dup | (p.Phe351Trpfs*16) | Novel | ||||||||
 | III-9 (29 yr) | Loss of teeth; bone deformity; fractures; short stature (− 5.67SD) |  |  |  |  |  |  | ||||||||
 | IV-1 | Trembling in both lower limbs; foot eversion; poor balance when walking |  |  |  |  |  |  | ||||||||
Family 7 | II-1 (28 yr) | Loss of teeth; O-shaped legs; short stature (− 5.67SD); fractures | PHEX | Splicing | Intron 19 | c.1965 + 1G > A | (p.?) | Reported | ||||||||
Family 8 | II-1 (6 yr) | X-shaped legs; dental defect; impaired physical mobility | PHEX | Missense | Exon 16 | C.1699C > T | (p.Arg567*) | Reported | ||||||||
Family 9 | II-1 (34 yr) | X-shaped legs; loss of teeth; fractures; kyphosis | SLC34A3 | Missense | Exon 12/Exon 12 | c.1336G > A/c.1364 T > C | (p.Val446Ile)/(p.Leu455Pro) | Novel/Novel |