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 |