Report of two FOP cases with 617G > A mutation in the ACVR1 gene from Chinese population

Clinical Dysmorphology

Volumn 19, Issue 4, 2010, Pages 206-208

  Guo, Hui ^a   Peng, Dan ^a   Xu, Min ^a   Xue, Jinjie ^a   Lu, Lina ^a   Xu, Xiaojuan ^a   Liu, Yalan ^a   Xiong, Zhimin ^a   Pan, Qian ^a   Hu, Zhengmao ^a   Xia, Kun ^a  

^a CENTRAL SOUTH UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

ACTIVIN A RECEPTOR TYPE 1; ACTIVIN RECEPTOR 1; UNCLASSIFIED DRUG;

ACVR1 GENE; ARTICLE; BONE RADIOGRAPHY; CASE REPORT; CHILD; CHINESE; FEMALE; GENE; HALLUX VALGUS; HETEROTOPIC OSSIFICATION; HETEROZYGOSITY; HUMAN; HUMERUS; JOINT LIMITATION; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; OSSIFYING MYOSITIS; OSTEOCHONDROMA; PHENOTYPE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; SCOLIOSIS; TIBIA;

ACTIVIN RECEPTORS, TYPE I; CHILD, PRESCHOOL; CHINA; FEMALE; HUMANS; MALE; MUTATION; MYOSITIS OSSIFICANS;

EID: 77957598019     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/MCD.0b013e32833986c8     Document Type: Article

References (4)

1. Deirmengian GK, Hebela NM, O'Connell M, Glaser DL, Shore EM, Kaplan FS (2008). Proximal tibial osteochondromas in patients with fibrodysplasia ossificans progressiva. J Bone Joint Surg Am 90:366-374.
2. Kaplan FS, Shore EM, Connor JM (2002). Fibrodysplasia ossificans progressive (FOP). In: Royce PM, Steinmann B, editors. Connective tissue and its heritable disorders: molecular, genetic, and medical aspects. 2nd editon. New York: Wiley-Liss; pp. 827-840.
3. Kaplan FS, Xu M, Seemann P, Connor JM, Glaser DL, Carroll L, et al. (2008). Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1. Hum Mutat 30:379-390.
4. Shore EM, Xu M, Feldman GJ, Fenstermacher DA, Cho TJ, Choi IH, et al. (2006). A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva. Nat Genet 38:525-527.