Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome.
Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome.
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DOI：
10.1002/jbmr.250
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发表时间：
2011-03
影响因子：
6.2
通讯作者：
Lee, Brendan
中科院分区：
文献类型：
--
作者：
Kelley, Brian P.;Malfait, Fransiska;Bonafe, Luisa;Baldridge, Dustin;Homan, Erica;Symoens, Sofie;Willaert, Andy;Elcioglu, Nursel;Van Maldergem, Lionel;Verellen-Dumoulin, Christine;Gillerot, Yves;Napierala, Dobrawa;Krakow, Deborah;Beighton, Peter;Superti-Furga, Andrea;De Paepe, Anne;Lee, Brendan
成骨不全症 (OI) 是一种结缔组织遗传性疾病，其特征是骨脆性以及 I 型胶原合成和翻译后修饰的改变。常染色体显性成骨不全是由编码 I 型胶原蛋白链的基因（COL1A1 或 COL1A2）突变引起的。布鲁克综合征是一种隐性疾病，除了骨骼脆弱外，还具有先天性挛缩的特征。 2 型布鲁克综合征是由编码胶原蛋白赖氨酰羟化酶的 PLOD2 突变引起的，而 1 型布鲁克综合征已定位于 17 号染色体，有证据表明位于 17p12 区域，但该基因迄今为止仍难以捉摸。最近，随着对 I 型原胶原独特翻译后修饰（即 3-脯氨酰羟基化）基础的描述，OI 的分子谱得到了扩展。软骨相关蛋白 (CRTAP)、脯氨酰-3-羟化酶-1（P3H1，由 LEPRE1 基因编码）和脯氨酰顺反异构酶亲环蛋白-B (PPIB) 三种蛋白质形成纤维状胶原蛋白 3-脯氨酰羟基化所需的复合物，并且每个基因的突变已被证明会导致隐性成骨不全症。从那时起，由 FKBP10（也称为 FKBP65）和 SERPINH1（也称为 HSP47）组成的另一个假定的胶原伴侣复合物也被证明在隐性 OI 中发生突变。在这里，我们描述了 5 个患有与先天性挛缩相关的 OI 样骨脆性的家庭，他们都具有 FKBP10 突变。因此，我们得出结论，FKBP10 突变是隐性成骨不全和布鲁克综合征的原因，可能是 1 型布鲁克综合征，因为 17 号染色体上的位置尚未明确定位。 © 2011 美国骨与矿物质研究学会。
Osteogenesis imperfecta (OI) is a genetic disorder of connective tissue characterized by bone fragility and alteration in synthesis and posttranslational modification of type I collagen. Autosomal dominant OI is caused by mutations in the genes (COL1A1 or COL1A2) encoding the chains of type I collagen. Bruck syndrome is a recessive disorder featuring congenital contractures in addition to bone fragility; Bruck syndrome type 2 is caused by mutations in PLOD2 encoding collagen lysyl hydroxylase, whereas Bruck syndrome type 1 has been mapped to chromosome 17, with evidence suggesting region 17p12, but the gene has remained elusive so far. Recently, the molecular spectrum of OI has been expanded with the description of the basis of a unique posttranslational modification of type I procollagen, that is, 3-prolyl-hydroxylation. Three proteins, cartilage-associated protein (CRTAP), prolyl-3-hydroxylase-1 (P3H1, encoded by the LEPRE1 gene), and the prolyl cis-trans isomerase cyclophilin-B (PPIB), form a complex that is required for fibrillar collagen 3-prolyl-hydroxylation, and mutations in each gene have been shown to cause recessive forms of OI. Since then, an additional putative collagen chaperone complex, composed of FKBP10 (also known as FKBP65) and SERPINH1 (also known as HSP47), also has been shown to be mutated in recessive OI. Here we describe five families with OI-like bone fragility in association with congenital contractures who all had FKBP10 mutations. Therefore, we conclude that FKBP10 mutations are a cause of recessive osteogenesis imperfecta and Bruck syndrome, possibly Bruck syndrome Type 1 since the location on chromosome 17 has not been definitely localized. © 2011 American Society for Bone and Mineral Research.
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影响因子：
64.5
作者：
Morello, Roy;Bertin, Terry K.;Lee, Brendan
通讯作者：
Lee, Brendan
影响因子：
4.8
作者：
REISER, K;MCCORMICK, RJ;RUCKER, RB
通讯作者：
RUCKER, RB
DOI：
10.1002/9780470110485.ch8
发表时间：
1982-01-01
期刊：
Methods of biochemical analysis
影响因子：
--
作者：
Robins, S P
通讯作者：
Robins, S P
影响因子：
9.8
作者：
van Dijk, Fleur S.;Nesbitt, Isabel M.;Pals, Gerard
通讯作者：
Pals, Gerard
影响因子：
4.5
作者：
Drögemüller C;Becker D;Brunner A;Haase B;Kircher P;Seeliger F;Fehr M;Baumann U;Lindblad-Toh K;Leeb T
通讯作者：
Leeb T