Table 2.
Clinical, molecular, biological and radiological details of the study
| Patient | Gender | Age (y) |
Mutation (NM_015265.3) |
Clinical Fracture | Radiological fracture | Other X-ray findings | Lumbar Spine aBMD Z-score SD (g/cm2) |
Total hip aBMD Z-score SD (g/cm2) |
ALP ULM |
CTX Plasm ULM |
Ca 2.2–2.6 mmol/L |
PTH 2nd generation Roche 10–47 pg/ml |
25 OH Vit D 30–60 ng/ml |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SATB2-01-P1 | Female | 11 |
c.1197dup p.(Lys400*) |
2 Humerus Clavicle |
Thin Cranial vault with demineralization Digitiform impressions Spine demineralization with thick cortical bone Delayed maturation Small epiphyseal bones Metaphyseal striations Foliated cortical bone |
− 3.5 (0.454) |
− 2.7 (0.626) |
NA | 0.78 | 2.27 | 41 | 26 | |
| SATB2-01-P2 | Male | 10 |
c.1627del p.(Arg543Alafs*3) |
1 Humerus |
Dorsal Vertebral fracture |
Cranial vault with demineralization Digitiform impressions Small epiphyseal bones Metaphyseal striations Foliated cortical bone |
− 1,1 (0.492) |
− 0.9 (0.627) |
0.86 | 0.79 | 2.5 | 23.2 | 24 |
| SATB2-01-P3 | Male | 7 | Deletion exons 3 and 4 | 0 | Vertebral fracture |
Thin cranial vault with demineralization Digitiform impressions Thin spine cortical bone with demineralization Delayed maturation Metaphyseal striations Small epiphyseal bones Foliated cortical bone |
− 1,8 (0.443) |
1.09 | 0.81 | 2.31 | 50.4 | 21 | |
| SATB2-01-P4 | Female | 9 |
c.1165C > T (pArg389Cys) |
1 Tibia |
Spine with demineralization Delayed maturation Metaphyseal striations Small epiphyseal bones Foliated cortical bone |
− 1.7 (0.447) |
− 1.8 (0.488) |
1.05 | 0.78 | 2.46 | 34.8 | 24 | |
| SATB2-01-P5 | Male | 11 | Deletion exons 3 and 4 |
1 Humerus |
Vertebral fracture |
Cranial vault demineralization Digitiform impressions Thin spine and long bone cortical Metaphyseal striations Small epiphyseal bones Foliated cortical bone |
− 2.8 (0.409) |
0.78 | 1.05 | 2.5 | 64.4 | 26 | |
| SATB2-01-P6 | Male | 7 |
c.703G > T p.(Glu235*) |
1 Clavicle |
Vertebral fracture |
Thin Cranial vault with demineralization Digitiform impressions Thin spine cortical bone with demineralization Delayed maturation Metaphyseal striations Small ivory epiphyseal bones Foliated cortical bone |
− 0.9 (0.451) |
0.80 | 0.81 | 2.51 | 42.2 | 24 | |
| SATB2-01-P7 | Male | 12 |
del 2q33.1 (minimum size of 29.114 bp) Deletion from 200,325,004 to 200,354,118 (GRCh37/hg19) |
3 Vertebral fracture, thigh bone |
Vertebral fracture |
Thin spine cortical bone with demineralization Metaphyseal striations |
− 2.0 (0,497) |
0.68 | NA | 2.43 | 28.3 | 19 | |
| SATB2-01-P9 | Male | 4 |
c.715C > T p.(Arg239*) |
0 |
Cranial vault demineralization Thin spine cortical bone with demineralization Delayed maturation Metaphyseal striations Small epiphyseal bones Foliated cortical bone |
-2.6 (0,339) |
0.78 | 0.89 | 2.45 | 20.8 | 42 | ||
| SATB2-01-P10 | Female | 14 |
c.955C > T p.(Gln319*) |
1 Forearm |
Thin Cranial vault Spine with demineralization Delayed maturation Metaphyseal striations Foliated cortical bone |
− 3.3 (0,746) |
0.79 | 0.77 | 2.24 | 68.2 | 30 | ||
| SATB2-01-P11 | Male | 4 |
c.715C > T p.(Arg239*) |
0 | Cranial vault demineralization | 0.71 | 0.57 | 2.33 | 32.8 | 44 | |||
| SATB2-01-P12 | Male | 1 |
c.658C > T p.(Gln220*) |
0 |
Thin spine cortical bone with demineralization Skeletal maturation advance Foliated cortical bone |
0.99 | 0.73 | 2.41 | 27.5 | ||||
| SATB2-01-P13 | Male | 6 |
del2q31.3 (7.78 Mb) |
0 |
Thin spine cortical bone with demineralization Delayed maturation Small epiphyseal bones Foliated cortical bone |
− 2.6 (0,445) |
− 0.9 (0,667) |
NA | NA | 31.2 | 25 | ||
| SATB2-02-P1 | Female | 9 |
c.1198A > G p.(Lys400Glu) |
0 | Vertebral fracture |
Cranial vault demineralization Digitiform impressions Thin spine cortical bone with demineralization Delayed maturation Metaphyseal striations Small epiphyseal bones Foliated cortical bone |
0.5 (0,631) |
− 1.1 (0,611) |
1.27 | NA | 2.35 | 21 | 35 |
| SATB2-04-P1 | Female | 7 |
c.715C > T p.(Arg239*) |
0 |
Digitiform impressions Thin spine cortical bone with demineralization Delayed maturation Foliated cortical bone |
1.12 | NA | 2.68 | 20.1 | 12.5 | |||
| SATB2-05-P1 | Female | 12 |
c.1285C > T p.(Arg429*) |
0 |
Cranial vault demineralization Digitiform impressions Spine with demineralization Metaphyseal striations |
− 2.3 (0,619) |
− 2.7 (0,572) |
0.51 | 1.29 | 29.2 | 21 | ||
| SATB2-06-P1 | Female | 13 | c.1696G > A p.(Glu566Lys) | 0 |
Thick Cranial vault with demineralization Thin spine cortical bone with demineralization Skeletal maturation advance Metaphyseal striations Small epiphyseal bones |
0.23 | 0.19 | 2.47 | 22.74 | ||||
| SATB2-06-P2 | Female | 8 |
c.1010 dup p.(Phe339Alafs*13) |
1 NA |
Thin spine cortical bone with demineralization Small epiphyseal bones Foliated cortical bone |
1.33 | 0.87 | 2.26 | 26 | 24 | |||
| SATB2-07-P1 | Female | 10 |
c.1610del p.(Asn537Thrfs*9) |
1 Elbow |
Cranial vault with demineralization Thin spine cortical bone with demineralization Metaphyseal striations Small epiphyseal bones Foliated cortical bone |
1.07 | NA | 2.42 | 19 | 37 | |||
| SATB2-08-P1 | Male | 19 | c.1538G > A p.(Ser513Asn) | 0 | Thin spine cortical bone |
− 0.2 (0,992) |
− 0.4 (1,094) |
0.62 | 0.74 | 2.4 | 32 | 32.3 |
Bone densitometry results are expressed in g/cm2 and Z-score SD
NA not applicable, SD standard deviation
ALP alkaline phosphatase activity, CTX C-telopeptide, ULM upper limit method