- Poster presentation
- Open Access
ACVR1 mutation and Fibrodysplasia Ossificans Progressiva in Chinese children
© Ho et al; licensee BioMed Central Ltd. 2011
- Published: 14 September 2011
- Atrial Septal Defect
- Pulmonary Tuberculosis
Fibrodysplasia Ossificans Progressiva (FOP) is a rare autosomal dominant connective tissue disorder characterized by congenital great toes malformation and progressive heterotopic osteogenesis leading to progressive debilitating ankylosis of the body. A recurrent missense mutation in the activin receptor 1A/activin-like kinase 2 (ACVR1/ALK2), a bone morphogenetic protein (BMP) receptor, was identified in almost all FOP patients1. Here we report two unrelated Chinese FOP adolescents harbouring this mutation. Both were referred to the rheumatological service with joint stiffness and abnormal calcification on imaging.
CSNM developed progressive jaw ankylosis since twelve years of age. She started to have recurrent soft tissue swellings involving neck, shoulders and back at sixteen. At that time she was suffering from pulmonary tuberculosis. The swellings subsided spontaneously, leaving bony hard masses.
WCY was born with multiple congenital abnormalities including hypospadias, atrial septal defect (ASD) and multiple exostoses. Starting from twelve year of age, he developed ankylosis of the left temporomandibular joint. The first FOP flare started with a painful swelling over his back and neck. This was followed by stiffening of the muscles.
Both patients had a heterozygous c.617G >A mutation detected in the exon 7 of the ACVR1 gene, resulting in an Arg206His substitution.
This article is published under license to BioMed Central Ltd. This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.