Supplemental Table 1. Clinical and Biochemical Results

-2Ⅱ -3Ⅱ -5Ⅱ -7Ⅱ -3Ⅲ -6Ⅲ -9Ⅲ -11Ⅲ -12Ⅲ -13Ⅲ -6Ⅳ

Age (yr) 71 61 50 46 45 35 27 24 24 15 4

Gender M F F M F M F M M M F

Lower leg weakness Yes No Yes Yes Yes No Yes No No No No

Bow leg Yes No Yes Yes No No No No No No No

Abnormal gait Yes No Yes Yes No No No No No No No

Bone fractures No No No Yes No No No No No No No

Height(cm) 150 N/A 143 145 155 N/A 145 N/A N/A N/A 85

Body weight (kg) 41 N/A 47 40 53 N/A 57 N/A N/A N/A 13.5

BMD (L1–L4) (gm/cm2) 1.592 N/A 1.169 1.848

(2018-5-11）1.668

(2019-7-22)

N/A N/A N/A N/A N/A N/A N/A

T /Z values of L1-L4 4.1/5.4 N/A 0.5/1.9 6.4/7.5

(2018-5-11)

4.9/5.9

(2019-7-22)

N/A N/A N/A N/A N/A N/A N/A

BMD (femoral neck)

(gm/cm2)

0.478 N/A 0.754 0.777

(2018-5-11)

1.278

(2019-7-22)

N/A N/A N/A N/A N/A N/A N/A

T /Z values of femoral

neck

-3.8/-2.2 N/A -1.5/-0.2 -1.5/-0.6

(2018-5-11)

2.3/3.3

(2019-7-22)

N/A N/A N/A N/A N/A N/A N/A

Phosphate (mmol/L)

(adults:0.81-1.45;

children: 1.45-2.10)

N/A N/A N/A 0.69 0.67 N/A 0.79 N/A N/A N/A 1.76

Calcium (mmol/L) (2.1-

2.7)

N/A N/A N/A 2.15 2.16 N/A 2.23 N/A N/A N/A 2.46

PTH (pmol/L) (1.6-6.9) N/A N/A N/A 7.91 17.54 N/A 12.88 N/A N/A N/A 4.68

25(OH)D3 (g/mL) (47.7-

144)

N/A N/A N/A 33.05 47.82 N/A 23.78 N/A N/A N/A 39.67

B-ALP (g/L) 11.4-24.6) N/A N/A N/A 50.55 11.59 N/A 17.88 N/A N/A N/A 66.42

CTx (ng/mL) (0.30- N/A N/A N/A 1.04 0.52 N/A 0.619 N/A N/A N/A 1.88

0.584)

FGF23 (pg/mL) (15-55) 164 27 94 112 68 42 86 48 53 32 30

TRP (%) (80-95) N/A N/A N/A 88 82 N/A 92 N/A N/A N/A 95

TmPO4/GFR (mg/dL)

(2.2-4.2)

N/A N/A N/A 1.87 1.70 N/A 2.28 N/A N/A N/A 5.16

Abbreviation: N/A, not applicable; BMD, bone mineral density; PTH, parathyroid hormone; B-ALP, bone-specific alkaline phosphatase; CTx, type I collagen C-

telopeptide; TRP, tubular reabsorption of phosphate; TmPO4/GFR, renal threshold phosphate concentration

Supplementary Figure 1. X-rays of the Ⅱ-2 (a-c) and Ⅱ-5 (d-f).