Dokuz Eylül University, Faculty of Medicine, Dept. of Medical Biology, İzmir, Turkey.
Gene. 2013 Feb 25;515(2):444-6. doi: 10.1016/j.gene.2012.12.005. Epub 2012 Dec 20.
Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disease characterized with congenital malformations of the great toes and progressive heterotopic ossifications in the skeletal muscles and soft tissue. FOP has been associated with a specific point mutation on the ACVR1 (Activin A receptor type I) gene. Four sporadic cases clinically diagnosed as FOP have been included in this study for mutational analysis. In three patients, heterozygote c.617G>A; p.R206H mutation was detected by both DNA sequence analyses and by HphI restrictive enzyme digestion. In the fourth patient, a heterozygote c.774G>T; p.R258S mutation in exon 5 was detected by DNA sequence analysis.
进行性骨化性纤维发育不良（FOP）是一种罕见的遗传性疾病，其特征为大脚趾先天性畸形和骨骼肌及软组织的进行性异位骨化。FOP 与 ACVR1（激活素 A 受体 I 型）基因的特定点突变有关。本研究纳入了 4 例临床诊断为 FOP 的散发性病例进行突变分析。在 3 例患者中，通过 DNA 序列分析和 HphI 限制性内切酶消化检测到杂合子 c.617G>A;p.R206H 突变。在第 4 例患者中，通过 DNA 序列分析检测到外显子 5 中的杂合子 c.774G>T;p.R258S 突变。
