Table 1. Open in new tab Clinical,...

Sex

Genotype TNRFSF11B

Age (y)

HT-SDS

CrP (mg/dL)

TSAP (U/L)

OPG (pmol/L)

RANKL (pmol/L)

RANKL/OPG

TRAP 5b (U/L)

OC (ng/mL)

DPD (µg/g creatinine)

IGF1-SDS

DEXAZ/T Score

BP (mm Hg)

JPD

IV.9

Female

c. [2T:G]; [2T:G]

11.17

–2.65

0.6

375

0.4

9.140

22.85

14.9

299.5

391

–1.05

−0.9

128/63

III.2

Male

c. [25_28dupCTCG]; [25_28dupCTCG]

2.61

−1.50

1.2

301

0.4

14.271

35.68

17.2

133.7

518

III.1

Female

del 8q24.12; del 8q24.1

6.0

–5.2

0.4

23.32

58.30

12.7

167.2

Heterozygous family members

IV.8

Female

c. [2T:G]; [=]

16.05

1.02

<0.5

126

1.8

0.381

0.21

87.9

−1

–1.1

IV.10

Male

c. [2T:G]; [=]

1.00

<0.5

398

4.1

1.909

0.46

21.2

81.2

III.7

Male

c. [2T:G]; [=]

39.70

0.59

<0.5

0.288

0.14

4.5

24.6

–1.4

122/70

III.8

Female

c. [2T:G]; [=]

35.20

−0.20

1.6

122

3.6

0.204

0.06

66.0

–2.5

122/73

III.4

Female

c. [2T:G]; [=]

34.51

0.67

<0.5

1.2

0.420

0.35

5,1

31.3

−0.4

133/76

IV.5

Male

c. [2T:G]; [=]

6.37

−0.22

<0.5

318

3.1

0.726

0.23

94.6

0.16

−0.3

118/58

III.10

Female

c. [2T:G]; [=]

47.72

−0.92

<0.5

2.4

0.217

0.09

5.2

28.5

−0.4

III.5

Male

c. [2T:G]; [=]

49.80

−0.30

150

2.9

0.494

0.17

4,4

–1.8

131/90

IV.4

Male

c. [2T:G]; [=]

11.24

<0.5

242

130

284

−0.14

0.5

II.3

Female

c. [25_28dupCTCG]; [=]

30.80

−0.78

<0.5

2.8

0.094

0.03

2.3

19.1

II.2

Male

c. [25_28dupCTCG]; [=]

32.11

0.64

<0.5

2.1

0.346

0.16

5.1

III.1

Male

c. [25_28dupCTCG]; [=]

3.16

0.22

<0.5

257

2.9

0.622

0.21

10.8

273

−0.59

II.2

Female

del 8q24.1; [=]

0.363

0.36

2.6

26.1

II.1

Male

del 8q24.1; [=]

1.8

0.229

0.13

2.9

34.4

Unaffected family members

III.2

Female

c. [=]; [=]

42.38

0.02

1.2

107

5.7

0.034

0.01

4.6

22.2

−1

IV.3^a

Male

c. [=]; [=]

13.60

−0.02

<0.5

368

3.1

0.413

0.13

241.7

283

1.11

–1.3

134/63

IV.6

Female

c. [=]; [=]

27.10

0.78

<0.5

3.7

0.080

0.02

3.6

28.2

−1

II.5

Female

c. [=]; [=]

35.92

0.59

3.7

0.108

0.03

II.7

Female

c. [=]; [=]

28.33

−0.24

3.3

0.159

0.05

Table 1.

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Clinical, Biochemical, and Radiological Characteristics of the 3 Index Patients With JPD, Heterozygous Family Members, and Unaffected Family Members

ID	Sex	Genotype TNRFSF11B	Age (y)	HT-SDS	CrP (mg/dL)	TSAP (U/L)	OPG (pmol/L)	RANKL (pmol/L)	RANKL/OPG	TRAP 5b (U/L)	OC (ng/mL)	DPD (µg/g creatinine)	IGF1-SDS	DEXAZ/T Score	BP (mm Hg)
JPD
IV.9	Female	c. [2T:G]; [2T:G]	11.17	–2.65	0.6	375	0.4	9.140	22.85	14.9	299.5	391	–1.05	−0.9	128/63
III.2	Male	c. [25_28dupCTCG]; [25_28dupCTCG]	2.61	−1.50	1.2	301	0.4	14.271	35.68	17.2	133.7	518
III.1	Female	del 8q24.12; del 8q24.1	6.0	–5.2			0.4	23.32	58.30	12.7	167.2
Heterozygous family members
IV.8	Female	c. [2T:G]; [=]	16.05	1.02	<0.5	126	1.8	0.381	0.21		87.9	97	−1	–1.1
IV.10	Male	c. [2T:G]; [=]	1.00		<0.5	398	4.1	1.909	0.46	21.2	81.2
III.7	Male	c. [2T:G]; [=]	39.70	0.59	<0.5	96	2	0.288	0.14	4.5	24.6	20		–1.4	122/70
III.8	Female	c. [2T:G]; [=]	35.20	−0.20	1.6	122	3.6	0.204	0.06	7	66.0	89		–2.5	122/73
III.4	Female	c. [2T:G]; [=]	34.51	0.67	<0.5	66	1.2	0.420	0.35	5,1	31.3			−0.4	133/76
IV.5	Male	c. [2T:G]; [=]	6.37	−0.22	<0.5	318	3.1	0.726	0.23	29	94.6		0.16	−0.3	118/58
III.10	Female	c. [2T:G]; [=]	47.72	−0.92	<0.5	87	2.4	0.217	0.09	5.2	28.5			−0.4
III.5	Male	c. [2T:G]; [=]	49.80	−0.30	1	150	2.9	0.494	0.17	4,4		27		–1.8	131/90
IV.4	Male	c. [2T:G]; [=]	11.24		<0.5	242					130	284	−0.14	0.5
II.3	Female	c. [25_28dupCTCG]; [=]	30.80	−0.78	<0.5	99	2.8	0.094	0.03	2.3	19.1	31
II.2	Male	c. [25_28dupCTCG]; [=]	32.11	0.64	<0.5	83	2.1	0.346	0.16	5.1	22	40
III.1	Male	c. [25_28dupCTCG]; [=]	3.16	0.22	<0.5	257	2.9	0.622	0.21	10.8	76	273	−0.59
II.2	Female	del 8q24.1; [=]					1	0.363	0.36	2.6	26.1
II.1	Male	del 8q24.1; [=]					1.8	0.229	0.13	2.9	34.4
Unaffected family members
III.2	Female	c. [=]; [=]	42.38	0.02	1.2	107	5.7	0.034	0.01	4.6	22.2			−1
IV.3^a	Male	c. [=]; [=]	13.60	−0.02	<0.5	368	3.1	0.413	0.13	33	241.7	283	1.11	–1.3	134/63
IV.6	Female	c. [=]; [=]	27.10	0.78	<0.5	56	3.7	0.080	0.02	3.6	28.2			−1
II.5	Female	c. [=]; [=]	35.92	0.59			3.7	0.108	0.03
II.7	Female	c. [=]; [=]	28.33	−0.24			3.3	0.159	0.05

ID	Sex	Genotype TNRFSF11B	Age (y)	HT-SDS	CrP (mg/dL)	TSAP (U/L)	OPG (pmol/L)	RANKL (pmol/L)	RANKL/OPG	TRAP 5b (U/L)	OC (ng/mL)	DPD (µg/g creatinine)	IGF1-SDS	DEXAZ/T Score	BP (mm Hg)
JPD
IV.9	Female	c. [2T:G]; [2T:G]	11.17	–2.65	0.6	375	0.4	9.140	22.85	14.9	299.5	391	–1.05	−0.9	128/63
III.2	Male	c. [25_28dupCTCG]; [25_28dupCTCG]	2.61	−1.50	1.2	301	0.4	14.271	35.68	17.2	133.7	518
III.1	Female	del 8q24.12; del 8q24.1	6.0	–5.2			0.4	23.32	58.30	12.7	167.2
Heterozygous family members
IV.8	Female	c. [2T:G]; [=]	16.05	1.02	<0.5	126	1.8	0.381	0.21		87.9	97	−1	–1.1
IV.10	Male	c. [2T:G]; [=]	1.00		<0.5	398	4.1	1.909	0.46	21.2	81.2
III.7	Male	c. [2T:G]; [=]	39.70	0.59	<0.5	96	2	0.288	0.14	4.5	24.6	20		–1.4	122/70
III.8	Female	c. [2T:G]; [=]	35.20	−0.20	1.6	122	3.6	0.204	0.06	7	66.0	89		–2.5	122/73
III.4	Female	c. [2T:G]; [=]	34.51	0.67	<0.5	66	1.2	0.420	0.35	5,1	31.3			−0.4	133/76
IV.5	Male	c. [2T:G]; [=]	6.37	−0.22	<0.5	318	3.1	0.726	0.23	29	94.6		0.16	−0.3	118/58
III.10	Female	c. [2T:G]; [=]	47.72	−0.92	<0.5	87	2.4	0.217	0.09	5.2	28.5			−0.4
III.5	Male	c. [2T:G]; [=]	49.80	−0.30	1	150	2.9	0.494	0.17	4,4		27		–1.8	131/90
IV.4	Male	c. [2T:G]; [=]	11.24		<0.5	242					130	284	−0.14	0.5
II.3	Female	c. [25_28dupCTCG]; [=]	30.80	−0.78	<0.5	99	2.8	0.094	0.03	2.3	19.1	31
II.2	Male	c. [25_28dupCTCG]; [=]	32.11	0.64	<0.5	83	2.1	0.346	0.16	5.1	22	40
III.1	Male	c. [25_28dupCTCG]; [=]	3.16	0.22	<0.5	257	2.9	0.622	0.21	10.8	76	273	−0.59
II.2	Female	del 8q24.1; [=]					1	0.363	0.36	2.6	26.1
II.1	Male	del 8q24.1; [=]					1.8	0.229	0.13	2.9	34.4
Unaffected family members
III.2	Female	c. [=]; [=]	42.38	0.02	1.2	107	5.7	0.034	0.01	4.6	22.2			−1
IV.3^a	Male	c. [=]; [=]	13.60	−0.02	<0.5	368	3.1	0.413	0.13	33	241.7	283	1.11	–1.3	134/63
IV.6	Female	c. [=]; [=]	27.10	0.78	<0.5	56	3.7	0.080	0.02	3.6	28.2			−1
II.5	Female	c. [=]; [=]	35.92	0.59			3.7	0.108	0.03
II.7	Female	c. [=]; [=]	28.33	−0.24			3.3	0.159	0.05

Given are the genotype at the TNFRSF11B locus; the age at investigation in years; the height (HT) SDS; serum levels of CrP (in mg/dL), TSAP (in U/L), OPG (in pmol/L), RANKL (in pmol/L), the RANKL/OPG ratio, TRAP 5b (in U/L), osteocalcin (OC, in ng/mL), DPD in urine (in µg/g creatinine), and IGF-1 (in ng/mL); IGF1-SDS; DEXA Z score or T score (depending on the age at time of investigation); and BP (in mm Hg). Pathological readings (aberrant from the applicable age appropriate norm) are highlighted by bold letters. Age-dependent reference values are provided as supplemental material.

Abbreviations: BP, blood pressure; CrP, C-reactive protein; DPD, deoxypyridinoline; DEXA, dual-emission X-ray absorptiometry; TSAP, tissue-specific alkaline phosphatase.

^a Individual IV.3 is suffering from rheumatoid arthritis.

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