2008
DOI: 10.1002/ajmg.a.32151
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A unique case of fibrodysplasia ossificans progressiva with an ACVR1 mutation, G356D, other than the common mutation (R206H)

Abstract: Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant congenital disease characterized by progressive heterotopic endochondral osteogenesis with great-toe malformations. A 617G > A (R206H) mutation of the activin A type 1 receptor gene (ACVR1) has been found in all previously reported patients with FOP. Thus, this is one of the most specific of all disease-associated mutations. We report here on a 62-year-old man with slowly progressive FOP and a novel mutation in ACVR1. He developed difficu… Show more

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Cited by 84 publications
(61 citation statements)
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“…Using the assay system, we attempted to design competent siRNAs conferring allele-specific silencing against two distinct ALK2 mutants found in FOP: one is ALK2_617G4A(R206H) and the other is ALK2_1067G4A(G356D), which is a rare mutation found in a variant FOP case. 4 The mutant ALK2 reporter alleles carrying the ALK2_ 617G4A(R206H) and ALK2_1067G4A(G356D) mutations and their corresponding normal (wild-type) reporter alleles were constructed (Supplementary Figure S1). SiRNAs targeting the mutant ALK2 were chemically synthesized (Supplementary Tables S1 and S2) and subjected to screening (assessment) by the assay system with the reporter alleles.…”
Section: Resultsmentioning
confidence: 99%
See 1 more Smart Citation
“…Using the assay system, we attempted to design competent siRNAs conferring allele-specific silencing against two distinct ALK2 mutants found in FOP: one is ALK2_617G4A(R206H) and the other is ALK2_1067G4A(G356D), which is a rare mutation found in a variant FOP case. 4 The mutant ALK2 reporter alleles carrying the ALK2_ 617G4A(R206H) and ALK2_1067G4A(G356D) mutations and their corresponding normal (wild-type) reporter alleles were constructed (Supplementary Figure S1). SiRNAs targeting the mutant ALK2 were chemically synthesized (Supplementary Tables S1 and S2) and subjected to screening (assessment) by the assay system with the reporter alleles.…”
Section: Resultsmentioning
confidence: 99%
“…3 In addition, other types of heterozygous ALK2 mutations have been also detected in patients with atypical FOP, for example, 1067G4A(G356D). 1,2,4 The pathogenic, mutant ALK2 receptor appears to be a highly sensitive bone morphogenetic protein (BMP) type I receptor to BMPs and external triggers, resulting in an apparently constitutively active ALK2 receptor, and thereby readily inducing heterotopic bone formation in FOP. 5,6 Currently, there is no definitive treatment of FOP.…”
Section: Introductionmentioning
confidence: 99%
“…Familial forms of the condition include progressive osseous heteroplasia and Albright hereditary osteodystrophy [48]. Recurrent mutations in the BMP type-1 receptor, activin receptor IA (ACVR1), and local changes in the expression of BMP-4 and its receptor (BMPR1A) have been linked to the rare genetic disorder fibrodysplasia ossificans progressiva [11,13,18,20,26]. The more common acquired forms of HO frequently occur as a complication of THA, elbow or acetabular fractures requiring surgical treatment, soft tissue injury secondary to trauma or deep muscle dissection, and traumatic brain or spinal cord injuries [3,7,8,25,49].…”
Section: Introductionmentioning
confidence: 99%
“…4,6 -8 An additional patient with an FOP variant was recently identified with a de novo ACVR1 mutation, G356R, associated with the disease. 9 The ACVR1 gene encodes the activin A type I receptor (also known as activin receptor-like kinase 2, ALK2), a receptor for bone morphogenetic proteins (BMPs). 10 ACVR1 is a type I serine/threonine receptor kinase belonging to the transforming growth factor-b receptor (TGFBR1) family, composed of seven receptors (ALKs 1 -7) (for a review, see Graham and Peng 11 ), which, together with type II receptors, form a heterotetrameric complex at the cell membrane.…”
Section: Introductionmentioning
confidence: 99%