Novel mutations in ACVR1 result in atypical features in two fibrodysplasia ossificans progressiva patients

Petrie, Kirsten, Lee, Wen, Bullock, Alex, Pointon, Jenny, Smith, Roger, Russell, Graham, Brown, Matthew, Wordsworth, Paul and Triffitt, James (2009) Novel mutations in ACVR1 result in atypical features in two fibrodysplasia ossificans progressiva patients. Plos One, 4 3: e5005.1-e5005.4. doi:10.1371/journal.pone.0005005


Author Petrie, Kirsten
Lee, Wen
Bullock, Alex
Pointon, Jenny
Smith, Roger
Russell, Graham
Brown, Matthew
Wordsworth, Paul
Triffitt, James
Title Novel mutations in ACVR1 result in atypical features in two fibrodysplasia ossificans progressiva patients
Journal name Plos One   Check publisher's open access policy
ISSN 1932-6203
Publication date 2009-03-30
Year available 2009
Sub-type Article (original research)
DOI 10.1371/journal.pone.0005005
Open Access Status DOI
Volume 4
Issue 3
Start page e5005.1
End page e5005.4
Total pages 4
Editor David C. Rubinsztein
Place of publication San Francisco, CA, United States
Publisher Public Library of Science
Collection year 2010
Language eng
Subject C1
970106 Expanding Knowledge in the Biological Sciences
970111 Expanding Knowledge in the Medical and Health Sciences
920116 Skeletal System and Disorders (incl. Arthritis)
060109 Proteomics and Intermolecular Interactions (excl. Medical Proteomics)
Abstract Fibrodysplasia Ossificans Progressiva (FOP) is a rare, heritable condition typified by progression of extensive ossification within skeletal muscle, ligament and tendon together with defects in skeletal development. The condition is easily diagnosed by the presence of shortened great toes and there is severe advancement of disability with age. FOP has been shown to result from a point mutation (c.617G>A) in the ACVR1 gene in almost all patients reported. Very recently two other mutations have been described in three FOP patients. We present here evidence for two further unique mutations (c.605G>T and c.983G>A) in this gene in two FOP patients with some atypical digit abnormalities and other clinical features. The observation of disparate missense mutations mapped to the GS and kinase domains of the protein supports the disease model of mild kinase activation and provides a potential rationale for phenotypic variation.
Keyword mutations
ossificans
atypical
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ
Additional Notes Article number e5005

 
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Created: Wed, 31 Mar 2010, 19:39:52 EST by Sarah Macaione on behalf of UQ Diamantina Institute