Confirmation of the recurrent ACVR1 617G>A mutation in South Africans with fibrodysplasia ossificans progressiva

Simple item page
dc.contributor.authorDandara, Collet
dc.contributor.authorScott, Chris
dc.contributor.authorUrban, Mike
dc.contributor.authorFieggen, Karen
dc.contributor.authorArendse, Regan
dc.contributor.authorBeighton, Peter
dc.date.accessioned2012-07-26T07:16:17Z
dc.date.available2012-07-26T07:16:17Z
dc.date.issued2012-07
dc.descriptionThe original publication is available at http://www.samj.org.zaen_ZA
dc.description.abstractObjective. Fibrodysplasia ossificans progressiva (FOP) is a rare genetic condition in which progressive ossification of fibrous tissue, tendons and ligaments leads to severe physical handicap. Most affected individuals who have been studied have a recurrent 617G>A mutation in the ACVR1/ALK2 gene that codes for activin A type 1 receptor/activin-like kinase 2. The majority of publications on the genetics of FOP have concerned whites or Asians, and no genetic information is available concerning sub-Saharan blacks. The aim of the project was to determine whether or not this mutation is present in affected persons in South Africa. Method. Molecular mutational analysis was undertaken on genomic DNA from peripheral blood leukocytes from 6 affected South Africans of different population groups (4 Xhosa, 1 coloured, 1 white). Results. The 6 persons with FOP were all heterozygous for the ACVR1/ALK2 617G>A mutation. This mutation was absent in 6 controls. Conclusion. Confirmation of the presence of this recurrent mutation facilitates diagnostic accuracy in affected persons in South Africa, and allows researchers to narrow the search for molecular targets for rational intervention to the ACVR1/ALK2 domain.en_ZA
dc.description.versionPublishers’ version
dc.identifier.citationDandara, C. et al. 2012. Confirmation of the recurrent ACVR1 617G>A mutation in South Africans with fibrodysplasia ossificans progressiva. South African Medical Journal, 102(7):631-633.en_ZA
dc.identifier.issn2078-5135 (online)
dc.identifier.issn0256-9574 (print)
dc.identifier.urihttp://hdl.handle.net/10019.1/21837
dc.publisherHealth and Medical Publishing Group (HMPG)en_ZA
dc.rights.holderAuthors retain copyrighten_ZA
dc.subjectFibrodysplasia ossificans progressiva -- South Africa -- Researchen_ZA
dc.subjectFibrodysplasia ossificans progressiva -- South Africa -- Cross-cultural studiesen_ZA
dc.subjectPeople with disabilities -- Genetic aspects -- South Africa -- Researchen_ZA
dc.subjectFibrodysplasia ossificans progressiva -- Molecular aspects -- Researchen_ZA
dc.titleConfirmation of the recurrent ACVR1 617G>A mutation in South Africans with fibrodysplasia ossificans progressivaen_ZA
dc.typeArticleen_ZA
Files
Original bundle
Now showing 1 - 1 of 1
Thumbnail Image
Name:
dandara_confirmation_2012.pdf
Size:
235.03 KB
Format:
Adobe Portable Document Format
Description:
Publishers' Version
Download
Collections
Research Articles (Molecular Biology and Human Genetics)