The phenotype and genotype of fibrodysplasia ossificans progressiva in China: a report of 72 cases.
The phenotype and genotype of fibrodysplasia ossificans progressiva in China: a report of 72 cases.
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DOI：
10.1016/j.bone.2013.09.002
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发表时间：
2013-12
期刊：
影响因子：
4.1
通讯作者：
Wang, Peijun
中科院分区：
文献类型：
--
作者：
Zhang, Wei;Zhang, Keqin;Song, Lige;Pang, Jing;Ma, Hongxing;Shore, Eileen M.;Kaplan, Frederick S.;Wang, Peijun
关键词：
进行性骨化性纤维发育不良是一种极其罕见的骨骼畸形和进行性异位骨化（HO）的致残性遗传疾病，是人类骨骼变态中最具灾难性的疾病。我们研究了中国72例FOP患者，分析了他们的表型和基因型，构成了世界上最大的FOP患者种族同质群体。汉族占99%（71/72例），回族占1%（1/72例）。根据临床检查，92%的患者（66/72例）患有经典FOP; 4%的患者（3/72例）为FOP+，4%的患者（3/72例）为FOP变体。重要的是，所有FOP患者的激活素A受体I型/激活素样激酶2（ACVR 1/ALK 2）的蛋白编码区都有突变。97%的FOP患者（70/72例）具有典型的c.617G>A（p.R206H）突变，而3%的FOP患者（2/72例）具有ACVR 1/ALK 2变异突变。总的来说，中国汉族FOP患者的基因型和表型与其他地方报道的相似，并支持这种超罕见疾病在世界上人口最多的国家以及广泛的种族，民族，性别和地理分布中的保真度。
Fibrodysplasia ossificans progressiva, an ultra-rare and disabling genetic disorder of skeletal malformations and progressive heterotopic ossification (HO), is the most catastrophic condition of skeletal metamorphosis in humans. We studied 72 patients with FOP in China and analyzed their phenotypes and genotypes comprising the world’s largest ethnically homogeneous population of FOP patients. Ninety-nine percent of patients (71/72 cases) were of Han nationality; one percent of patients (1/72 cases) were of Hui nationality. Based on clinical examination, ninety-two percent of patients (66/72 cases) had classic FOP; four percent of patients (3/72 cases) were FOP-plus, and four percent of patients (3/72) were FOP variants. Importantly, all individuals with FOP had mutations in the protein-coding region of Activin A Receptor, Type I/Activin-like kinase 2 (ACVR1/ALK2). Ninety-seven percent of FOP patients (70/72 cases) had the canonical c.617G>A (p.R206H) mutation, while three percent of FOP patients (2/72 cases) had variant mutations in ACVR1/ALK2. Taken together, the genotypes and phenotypes of individuals with FOP from the Han nationality in China are similar to those reported elsewhere and supports the fidelity of this ultra-rare disorder in the world’s most highly populated nation and across wide racial, ethnic, gender and geographic distributions.
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影响因子：
8
作者：
Kaplan, Frederick S.;Xu, Meiqi;Shore, Eileen M.
通讯作者：
Shore, Eileen M.
DOI：
10.7196/samj.5519
发表时间：
2012-07-01
期刊：
SAMJ: South African Medical Journal
影响因子：
--
作者：
Dandara, Collet;Scott, Chris;Beighton, Peter
通讯作者：
Beighton, Peter
DOI：
10.1016/j.berh.2007.11.007
发表时间：
2008-03-01
影响因子：
5.2
作者：
Kaplan, Frederick S.;Le Merrer, Martine;Groppe, Jay
通讯作者：
Groppe, Jay
影响因子：
2.3
作者：
Mahboubi, S;Glaser, DL;Kaplan, FS
通讯作者：
Kaplan, FS
DOI：
10.1074/jbc.m112.365932
发表时间：
2012-10-26
期刊：
The Journal of biological chemistry
影响因子：
--
作者：
Chaikuad A;Alfano I;Kerr G;Sanvitale CE;Boergermann JH;Triffitt JT;von Delft F;Knapp S;Knaus P;Bullock AN
通讯作者：
Bullock AN