Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Activin A receptor, type I

The gene encodes a membrane bound receptor essential for signal transduction through a tyrosine kinase. This receptor has an important function in cell development, so heterozygous mutations in this gene are associated with fibrodysplasia ossificans progressive.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Fibrodysplasia ossificans progressiva
ACVR1

References:

1.

Shore EM et al. (2006) A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva.

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2.

Lin GT et al. (2006) De novo 617G-A nucleotide mutation in the ACVR1 gene in a Taiwanese patient with fibrodysplasia ossificans progressiva.

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3.

Nakajima M et al. (2007) The ACVR1 617G>A mutation is also recurrent in three Japanese patients with fibrodysplasia ossificans progressiva.

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4.

Furuya H et al. (2008) A unique case of fibrodysplasia ossificans progressiva with an ACVR1 mutation, G356D, other than the common mutation (R206H).

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5.

Bocciardi R et al. (2009) Mutational analysis of the ACVR1 gene in Italian patients affected with fibrodysplasia ossificans progressiva: confirmations and advancements.

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6.

Kaplan FS et al. (2009) Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1.

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7.

Petrie KA et al. (2009) Novel mutations in ACVR1 result in atypical features in two fibrodysplasia ossificans progressiva patients.

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8.

Barnett CP et al. (2011) Late-onset variant fibrodysplasia ossificans progressiva leading to misdiagnosis of ankylosing spondylitis.

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9.

Smith R et al. (1976) Myositis ossificans progressiva. Clinical features of eight patients and their response to treatment.

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10.

Virdi AS et al. (1999) Phenotypic and molecular heterogeneity in fibrodysplasia ossificans progressiva.

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11.

Mathews LS et al. (1991) Expression cloning of an activin receptor, a predicted transmembrane serine kinase.

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12.

Kaplan FS et al. (2007) Hematopoietic stem-cell contribution to ectopic skeletogenesis.

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13.

Yu PB et al. (2008) BMP type I receptor inhibition reduces heterotopic [corrected] ossification.

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14.

Frame B et al. (1972) Polyostotic fibrous dysplasia and myositis ossificans progressiva. A report of coexistence.

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15.

Attisano L et al. (1993) Identification of human activin and TGF beta type I receptors that form heteromeric kinase complexes with type II receptors.

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16.

Matsuzaki K et al. (1993) A widely expressed transmembrane serine/threonine kinase that does not bind activin, inhibin, transforming growth factor beta, or bone morphogenic factor.

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17.

ten Dijke P et al. (1993) Activin receptor-like kinases: a novel subclass of cell-surface receptors with predicted serine/threonine kinase activity.

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18.

Röijer E et al. (1998) Chromosomal localization of three human genes encoding members of the TGF-beta superfamily of type I serine/threonine kinase receptors.

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19.

NCBI article

NCBI 90 [^]
20.

OMIM.ORG article

Omim 102576 [^]
21.

Orphanet article

Orphanet ID 117759 [^]
22.

Wikipedia article

Wikipedia EN (ACVR1) [^]
Update: April 29, 2019