TABLE 1.

Clinical and bone densitometry findings in 13 mutation‐positive and five mutation‐negative family members with heterozygous missense mutation p.G218R in ARHGAP25

Code	Sex	Age	BMD Z‐score			Fractures		Adult height loss (cm)	Back pain	Joint pain	Osteoporosis medication	Autoimmune/autoinflammatory diseases
			LS	FN	WB	Peripheral	Vertebral
Mutation‐positive subjects (n = 13)
II‐2 a	F	69	3.7	−0.3	0.4	>60	4	10	Y	Y	Y	Psoriasis, dermatitis herpetiformis
II‐1	M	70	−0.3	−0.2	N/A	3	0	N/A	Y	Y	N	Psoriasis
II‐3 a	M	67	1.5	−0.5	−0.3	8	2	6	Y	Y	N	Unspecific abdominal pain
II‐4 a	F	64	0.2	1.1	0.0	4–5	5	3	Y	Y	Y	Psoriasis, celiac disease, Crohn's disease
II‐5	M	61	0.0	−1.3	N/A	>6	0	0	Y	Y	Y	Hypothyroidism, rheumatoid arthritis
III‐2	F	42	+0.9	0.0	N/A	3	0	0	Y	Y	N	Hypothyroidism
IV‐2	M	7	N/A	N/A	N/A	0	0	0	N	N	N	Hypothyroidism
III‐3 a	F	40	−0.7	−0.3	0.2	1	2 c	0	N/A	N/A	N	–
IV‐3 a	F	11	0.0	0.0 d	0.4	0	0	0	N	N/A	N	–
II‐7 a	M	62	−0.8 b	0.3	−0.6	0	5	0	Y	Y	N	Unspecific abdominal pain
II‐6 a	M	62	1.0	0.7	0.2	3	4	0	Y	Y	N	Unspecific abdominal pain
III‐5 a	F	36	−0.3	−0.9	0.4	0	0	0	Y	Y	N	Unspecific abdominal pain
III‐6 a	F	33	−0.3	−0.4	0.0	0	0	0	Y	Y	N	–
Mutation‐negative subjects (n = 5)
I‐1	M	93	−1.0	−2.8	N/A	0	1	0	N	N	N	–
III‐1	F	45	+0.7	−0.6	N/A	1	0	0	N	N	N	–
IV‐4 a	M	8	0.9	3.2 d	1.2	0	0	0	N/A	N/A	N	Unspecific abdominal pain
IV‐1	M	9	N/A	N/A	N/A	0	0	0	N	Y	N	–
III‐4	F	40	−0.8	−0.5	N/A	1	0	0	N	Y	N	Rheumatic arthritis

Abbreviations: F, female; FN, femoral neck; LS, lumbar spine; M, male; N, no; N/A, not available; WB, whole body; Y, yes.

^aClinically evaluated during a study visit at the Helsinki University Hospital.

^bOnly for L₁ and L₂.

^cDecrease in vertebral height <20%.

^dMeasurement for total femoral head.