A novel homozygous 5 bp deletion in FKBP10 causes clinically Bruck syndrome in an Indonesian patient

作者：Setijowati E D; van Dijk F S; Cobben J M; van Rijn R R; Sistermans E A; Faradz S M H; Kawiyana S; Pals G^*

来源：European Journal of Medical Genetics, 2012, 55(1): 17-21.

DOI：10.1016/j.ejmg.2011.10.002

• Bruck syndrome
• FKBP10
• Collagen type I

We report an Indonesian patient with bone fragility and congenital joint contractures. The initial diagnosis was Osteogenesis Imperfecta type III (OI type III) based on clinical and radiological findings. Because of (i) absence of COL1A1/2 mutations, (ii) a consanguineous pedigree with a similarly affected sibling and (iii) the existence of congenital joint contractures with absence of recessive variants in PLOD2, mutation analysis was performed of the FKBP10 gene, recently associated with Bruck syndrome and/or recessive OI. A novel homozygous deletion in FKBP10 was discovered. Our report of the first Indonesian patient with clinically Bruck syndrome, confirms the role of causative recessive FKBP10 mutations in this syndrome.

• 出版日期2012-1