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

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• 作者：E.D. Setijowati^a ; ^b ; F.S. van Dijk^a ; J.M. Cobben^c ; R.R. van Rijn^d ; E.A. Sistermans^a ; S.M.H. Faradz^b ; S. Kawiyana^d ; G. Pals^a ; ^{g.pals@vumc.nl}
• 关键词：Bruck syndrome ; FKBP10 ; Collagen type I
• 刊名：European Journal of Medical Genetics
• 出版年：2012
• 出版时间：January 2012
• 年：2012
• 卷：55
• 期：1
• 页码：17-21
• 全文大小：489 K

文摘

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.