Figure 1.
Clinical phenotypes in probands with Bruck syndrome.
For proband 1, (A)–(B) severe flexion deformity of knees (white arrows); (C) small joint laxity of hand and scar of orthopedic surgery for correcting thumb-in-palm deformity (white arrow). For proband 2, (D) left pes equinovarus and invisible right fourth toe because of camptodactyly (white arrow); (E) congenital joint contracture of right elbow and camptodactyly of right thumb (white arrows); (F) camptodactyly of fourth toes (white arrows); (G) mild camptodactyly of left 3–4th fingers and right thumb, 4–5 fingers (white arrows); (H) limited movement of knees and invisible right fourth toe from this view (white arrows); (I) severe ithyokyphosis.
Figure 2.
Radiological findings in the two probands with Bruck syndrome.
For proband 1, (A) occipital wormian bone (white arrow); (B) scoliosis (black arrow) and thoracic cage collapse (white arrows); (C)–(D) slender femur with thin cortices (black arrow), metaphyseal enlargement of distal femur (white arrow) and old fracture (white arrow); (E) old fractures and bending of femora (black arrows), severe deformity of pelvis and osteoporosis. For proband 2, (F) occipital wormian bone (white arrow); (G) embedded fracture of right distal femur (white arrow); (H) multiple vertebral compression fractures (white arrows) and ithyokyphosis; (I) rotation kyphoscoliosis (white arrow), indistinct ribs and thoracic cage collapse; (J) severe deformity of pelvis and osteoporosis.
Figure 3.
Pedigree of the two families displaying Bruck syndrome and mutation analysis.
Probands are indicated by the arrows. Black symbols indicate individuals with Bruck syndrome; shadow symbols represent carriers. (A) In proband 1, novel compound heterozygous mutations of FKBP10 were identified as: c.764_772dupACGTCCTCC (p.255_257dupHisValLeu) in exon 5 and c.1405G>T (p.Gly469X) in exon 9. (B) In proband 2, novel compound heterozygous mutations of PLOD2 were identified as: c. 1624delT (p.Tyr542Thrfs*18) in exon 14 and c.1880T>C (p.Val627Ala) in exon 17. The probands' parents were both asymptomatic heterozygous carriers for the compound mutations, respectively.
Figure 4.
Mutation information of FKBP10 and PLOD2.
(A) Representation of FKBP65 with the location of mutations in proband 1 (black arrows). (B) The whole stretch sequence around Leu258 is highly conserved in FKBP65 among 14 different species. Red arrow indicates position of p.255_257dupHisValLeu mutation. (C) Blue boxes indicate all exons of FKBP10. Mutations were identified in FKBP10 in patients with Bruck syndrome and osteogenesis imperfecta. The two kinds of mutations in our study are shown in red. (D) Blue boxes indicate all exons of PLOD2. Mutations were identified in PLOD2 in patients with Bruck syndrome and osteogenesis imperfecta. The two kinds of mutations in this study are shown in red. Mutation in exon 17 of proband 2 will lead to change of amino acid in lysyl hydroxylase at highly conserved among 11 different species.
Table 1.
Clinical characteristics of the two patients with BS.
Table 2.
Clinical, radiological and genetic information of patients with BS.