An Activin Receptor IAActivin-Like Kinase-2 (R206H) Mutation in Fibrodysplasia Ossificans Progressiva
Joint Authors
Ramírez-Sandoval, Roxana
Bollain-y-Goytia, Juan José
Herrera-Esparza, Rafael
Avalos-Díaz, Esperanza
Torres-del-Muro, Felipe
Pacheco-Tovar, Deyanira
Castañeda-Ureña, María
Pacheco-Tovar, María Guadalupe
Source
Issue
Vol. 2013, Issue 2013 (31 Dec. 2013), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2013-04-09
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
Fibrodysplasia ossificans progressiva (FOP) is an exceptionally rare genetic disease that is characterised by congenital malformations of the great toes and progressive heterotopic ossification (HO) in specific anatomical areas.
This disease is caused by a mutation in activin receptor IA/activin-like kinase-2 (ACVR1/ALK2).
A Mexican family with one member affected by FOP was studied.
The patient is a 19-year-old female who first presented with symptoms of FOP at 8 years old; she developed spontaneous and painful swelling of the right scapular area accompanied by functional limitation of movement.
Mutation analysis was performed in which genomic DNA as PCR amplified using primers flanking exons 4 and 6, and PCR products were digested with Cac8I and HphI restriction enzymes.
The most informative results were obtained with the exon 4 flanking primers and the Cac8I restriction enzyme, which generated a 253 bp product that carries the ACVR1 617G>A mutation, which causes an amino acid substitution of histidine for arginine at position 206 of the glycine-serine (GS) domain, and its mutation results in the dysregulation of bone morphogenetic protein (BMP) signalling that causes FOP.
American Psychological Association (APA)
Herrera-Esparza, Rafael& Pacheco-Tovar, Deyanira& Bollain-y-Goytia, Juan José& Torres-del-Muro, Felipe& Ramírez-Sandoval, Roxana& Pacheco-Tovar, María Guadalupe…[et al.]. 2013. An Activin Receptor IAActivin-Like Kinase-2 (R206H) Mutation in Fibrodysplasia Ossificans Progressiva. Case Reports in Genetics،Vol. 2013, no. 2013, pp.1-5.
https://search.emarefa.net/detail/BIM-458258
Modern Language Association (MLA)
Herrera-Esparza, Rafael…[et al.]. An Activin Receptor IAActivin-Like Kinase-2 (R206H) Mutation in Fibrodysplasia Ossificans Progressiva. Case Reports in Genetics No. 2013 (2013), pp.1-5.
https://search.emarefa.net/detail/BIM-458258
American Medical Association (AMA)
Herrera-Esparza, Rafael& Pacheco-Tovar, Deyanira& Bollain-y-Goytia, Juan José& Torres-del-Muro, Felipe& Ramírez-Sandoval, Roxana& Pacheco-Tovar, María Guadalupe…[et al.]. An Activin Receptor IAActivin-Like Kinase-2 (R206H) Mutation in Fibrodysplasia Ossificans Progressiva. Case Reports in Genetics. 2013. Vol. 2013, no. 2013, pp.1-5.
https://search.emarefa.net/detail/BIM-458258
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-458258