Clinical, Genetics, and Bioinformatic Characterization of Mutations Affecting an Essential Region of PLS3 in Patients with BMND18

Table 1

Clinical characteristics, BMD scores, and biochemistry at the time of the first evaluation.

Subjects	IV-1	III-4	III-3
	Hemizygous	Heterozygous	No mutation
Age	11	40	44
Sex	Male	Female	Male
Long-bone fractures,	2	0	0
Vertebral compression fractures	Yes	No	No
L1-L4 BMD (z-score)	−1.2	0	0.8
Femoral neck BMD (z-score)	−2.1	−1.4	0.5
Alkaline phosphatase (IU/L)	252	49	36
25-OH vitamin D (nmol/L)	23	31	45