Tags

Type your tag names separated by a space and hit enter

A recurrent mutation c.617G>A in the ACVR1 gene causes fibrodysplasia ossificans progressiva in two Chinese patients.
Calcif Tissue Int. 2009 May; 84(5):361-5.CT

Abstract

Fibrodysplasia ossificans progressiva (FOP; OMIM 135100) is a rare heritable disorder of connective tissue characterized by congenital malformations of the great toes and recurrent episodes of painful soft tissue swelling that lead to heterotopic ossifications. Recent studies have shown that the ACVR1 (activin A receptor, type I; OMIM 102576) gene, which encodes the BMP type I receptor protein, is responsible for this disease. We observed two Chinese patients who suffered from progressive pain and ankylosis of major joints with congenital bilateral hallus valgus malformation, neck stiffness, and several posttraumatic ossified lesions on the head and dorsum. Both patients were diagnosed as having FOP. This study aimed to investigate the ACVR1 gene mutation in Chinese FOP patients. Direct sequence analysis of genomic DNA and restriction enzyme digestion demonstrated the presence of a single heterozygous c.617G>A (p.R206H) mutation in the ACVR1 gene in both patients. This mutation is first reported in Chinese patients with FOP and it was de novo in both affected families.

Authors+Show Affiliations

Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

19300893

Citation

Sun, Yue, et al. "A Recurrent Mutation c.617G>A in the ACVR1 Gene Causes Fibrodysplasia Ossificans Progressiva in Two Chinese Patients." Calcified Tissue International, vol. 84, no. 5, 2009, pp. 361-5.
Sun Y, Xia W, Jiang Y, et al. A recurrent mutation c.617G>A in the ACVR1 gene causes fibrodysplasia ossificans progressiva in two Chinese patients. Calcif Tissue Int. 2009;84(5):361-5.
Sun, Y., Xia, W., Jiang, Y., Xing, X., Li, M., Wang, O., Zhang, H., Hu, Y., Liu, H., Meng, X., & Zhou, X. (2009). A recurrent mutation c.617G>A in the ACVR1 gene causes fibrodysplasia ossificans progressiva in two Chinese patients. Calcified Tissue International, 84(5), 361-5. https://doi.org/10.1007/s00223-009-9235-9
Sun Y, et al. A Recurrent Mutation c.617G>A in the ACVR1 Gene Causes Fibrodysplasia Ossificans Progressiva in Two Chinese Patients. Calcif Tissue Int. 2009;84(5):361-5. PubMed PMID: 19300893.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A recurrent mutation c.617G>A in the ACVR1 gene causes fibrodysplasia ossificans progressiva in two Chinese patients. AU - Sun,Yue, AU - Xia,Weibo, AU - Jiang,Yan, AU - Xing,Xiaoping, AU - Li,Mei, AU - Wang,Ou, AU - Zhang,Huabing, AU - Hu,Yingying, AU - Liu,Huaicheng, AU - Meng,Xunwu, AU - Zhou,Xueying, Y1 - 2009/03/20/ PY - 2008/07/29/received PY - 2009/02/24/accepted PY - 2009/3/21/entrez PY - 2009/3/21/pubmed PY - 2009/7/3/medline SP - 361 EP - 5 JF - Calcified tissue international JO - Calcif Tissue Int VL - 84 IS - 5 N2 - Fibrodysplasia ossificans progressiva (FOP; OMIM 135100) is a rare heritable disorder of connective tissue characterized by congenital malformations of the great toes and recurrent episodes of painful soft tissue swelling that lead to heterotopic ossifications. Recent studies have shown that the ACVR1 (activin A receptor, type I; OMIM 102576) gene, which encodes the BMP type I receptor protein, is responsible for this disease. We observed two Chinese patients who suffered from progressive pain and ankylosis of major joints with congenital bilateral hallus valgus malformation, neck stiffness, and several posttraumatic ossified lesions on the head and dorsum. Both patients were diagnosed as having FOP. This study aimed to investigate the ACVR1 gene mutation in Chinese FOP patients. Direct sequence analysis of genomic DNA and restriction enzyme digestion demonstrated the presence of a single heterozygous c.617G>A (p.R206H) mutation in the ACVR1 gene in both patients. This mutation is first reported in Chinese patients with FOP and it was de novo in both affected families. SN - 1432-0827 UR - https://www.unboundmedicine.com/medline/citation/19300893/A_recurrent_mutation_c_617G>A_in_the_ACVR1_gene_causes_fibrodysplasia_ossificans_progressiva_in_two_Chinese_patients_ L2 - https://dx.doi.org/10.1007/s00223-009-9235-9 DB - PRIME DP - Unbound Medicine ER -