Elsevier

Bone

Volume 57, Issue 2, December 2013, Pages 386-391
Bone

Original Full Length Article
The phenotype and genotype of fibrodysplasia ossificans progressiva in China: A report of 72 cases

https://doi.org/10.1016/j.bone.2013.09.002Get rights and content
Under a Creative Commons license
open access

Highlights

  • We report the largest ethnically homogeneous population of FOP patients in the world.

  • We present a more detailed description for the spontaneous onset and trauma-induced onset of FOP in patients.

  • The gene mutation and phenotype–genotype correlation in Chinese FOP patients are very similar with those of patients outside China.

  • We report the problems in diagnosing FOP in China.

Abstract

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; and 1% of patients (1/72 cases) were of Hui nationality. Based on clinical examination, 92% of patients (66/72 cases) had classic FOP; 4% of patients (3/72 cases) were FOP-plus; and 4% 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 3% 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 support the fidelity of this ultra-rare disorder in the world's most highly populated nation and across wide racial, ethnic, gender and geographic distributions.

Keywords

Fibrodysplasia ossificans progressiva
Heterotopic ossification
Bone morphogenetic protein
ACVR1
ALK2

Cited by (0)

This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial-No Derivative Works License, which permits non-commercial use, distribution, and reproduction in any medium, provided the original author and source are credited.

1

Co-first authors.

2

Present address: Department of Osteoporosis, The First People's Hospital of Lian Yungang, Lian Yungang City, Jiangsu Province, China.