Table 5:

CHARACTERISTICS OF THE SUBJECTS WITH LIKELY PATHOGENIC GENETIC VARIANTS IDENTIFIED and THOSE WITH VARIANTS OF UNCERTAIN SIGNIFICANCE

	Subjects with Likely Pathogenic Variants				Subjects with Variants of Uncertain Significance
	Subject #1	Subject #2	Subject #3	Subject #4	Subject #5	Subject #6	Subject #7	Subject #8
Age (years)	31	44	44	38	43	29	34	41
Ht (cm)	154	162	161	167	167	168	164	154
Wt (kg)	56	74	62	64	53	51	67	39
BMI (kg/m2)	23.6	28.1	23.9	23.0	19.1	18.2	24.8	16.5
BMD Z scores
LS	−3.8	−2.1	−3.1	−1.7	−2.5	−3.2	−1.9	−1.2
TH	−2.4	−1.0	−1.6	−0.8	−1.7	−1.4	−1.4	−1.8
FN	−2.2	−1.5	−2.6	−0.7	−2.5	−1.6	−1.3	−2.6
DR	−0.8	−0.8	−0.1	0.4	0.3	−2.1	−0.3	0.1
Number of adult fractures	7	2	1	2	0	2	10	0
Fracture Types (in adulthood)	wrist, rib, 5 vertebrae (thoracic)	ankle and wrist	Rib	Right hip × 2	N/A	2 vertebrae (thoracic)	Multiple tibia and femur, 2 vertebrae (thoracic and lumbar)	N/A
History of pregnancy or lactation associated fractures	YES	NO	NO	YES	NO	YES	YES	NO
History of vertebral fractures	YES	NO	NO	NO	NO	YES	YES	NO
History of multiple fractures in adulthood	YES	YES	NO	YES	NO	YES	YES	NO
History of childhood fractures	YES	NO	YES	YES	NO	YES	YES	NO
Family history of osteoporosis	YES	YES	YES	NO	YES	NO	NO	NO
History of Renal Stones	YES	NO	NO	NO	NO	YES	NO	YES
Bone formation rate (histomorphometry of bone biopsy sample; mm2/mm/year)	0.000 (undetectable)	0.000 (undetectable)	0.007	0.002	0.003	0.010	0.013	0.023
Low bone turnover as previously defined	YES	YES	NO	YES	YES	NO	NO	NO
Responded to teriparatide, a bone formation stimulating medication. Response defined as spine BMD increase > Hologic least significant change (0.026 g/cm2) at 12 months	YES	N/A	N/A	NO	NO	YES	YES	YES