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Mutational screening of ACVR1 gene in Brazilian fibrodysplasia ossificans progressiva patients.
Clin Genet. 2010 Feb; 77(2):171-6.CG

Abstract

Fibrodysplasia ossificans progressiva (FOP) is a severe genetic disorder reported worldwide. A specific heterozygous mutation (c.617G> A; p.R206H) in the activin A type I receptor gene (ACVR1) is regarded as the genetic cause of FOP in all classically affected individuals worldwide. However, a few patients with FOP variants harbor distinct mutations in ACVR1. We screened a group of FOP Brazilian population for mutations in ACVR1. Of 16 patients with a classic FOP phenotype (10 males and 6 females, age range of 3-42 years), all had the classic mutation (p.R206H). One 21-year-old woman with a variant FOP phenotype had the previously reported c.983G> A mutation (p.G328E). Our study contributes to the understanding of the predominant FOP phenotype and genotype and suggests that variant FOP phenotypes are associated with specific mutations in ACVR1 gene.

Authors+Show Affiliations

Genetic Unit, Sarah Rehabilitation Hospital, Belo Horizonte-MG, São Luiz-MA, Brasilia-DF, Brazil. danielcarvalho@sarah.brNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

19796185

Citation

Carvalho, D R., et al. "Mutational Screening of ACVR1 Gene in Brazilian Fibrodysplasia Ossificans Progressiva Patients." Clinical Genetics, vol. 77, no. 2, 2010, pp. 171-6.
Carvalho DR, Navarro MM, Martins BJ, et al. Mutational screening of ACVR1 gene in Brazilian fibrodysplasia ossificans progressiva patients. Clin Genet. 2010;77(2):171-6.
Carvalho, D. R., Navarro, M. M., Martins, B. J., Coelho, K. E., Mello, W. D., Takata, R. I., & Speck-Martins, C. E. (2010). Mutational screening of ACVR1 gene in Brazilian fibrodysplasia ossificans progressiva patients. Clinical Genetics, 77(2), 171-6. https://doi.org/10.1111/j.1399-0004.2009.01256.x
Carvalho DR, et al. Mutational Screening of ACVR1 Gene in Brazilian Fibrodysplasia Ossificans Progressiva Patients. Clin Genet. 2010;77(2):171-6. PubMed PMID: 19796185.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Mutational screening of ACVR1 gene in Brazilian fibrodysplasia ossificans progressiva patients. AU - Carvalho,D R, AU - Navarro,M M M, AU - Martins,B J A F, AU - Coelho,K E F A, AU - Mello,W D, AU - Takata,R I, AU - Speck-Martins,C E, Y1 - 2009/10/01/ PY - 2009/10/3/entrez PY - 2009/10/3/pubmed PY - 2010/4/17/medline SP - 171 EP - 6 JF - Clinical genetics JO - Clin Genet VL - 77 IS - 2 N2 - Fibrodysplasia ossificans progressiva (FOP) is a severe genetic disorder reported worldwide. A specific heterozygous mutation (c.617G> A; p.R206H) in the activin A type I receptor gene (ACVR1) is regarded as the genetic cause of FOP in all classically affected individuals worldwide. However, a few patients with FOP variants harbor distinct mutations in ACVR1. We screened a group of FOP Brazilian population for mutations in ACVR1. Of 16 patients with a classic FOP phenotype (10 males and 6 females, age range of 3-42 years), all had the classic mutation (p.R206H). One 21-year-old woman with a variant FOP phenotype had the previously reported c.983G> A mutation (p.G328E). Our study contributes to the understanding of the predominant FOP phenotype and genotype and suggests that variant FOP phenotypes are associated with specific mutations in ACVR1 gene. SN - 1399-0004 UR - https://www.unboundmedicine.com/medline/citation/19796185/Mutational_screening_of_ACVR1_gene_in_Brazilian_fibrodysplasia_ossificans_progressiva_patients_ L2 - https://doi.org/10.1111/j.1399-0004.2009.01256.x DB - PRIME DP - Unbound Medicine ER -