Tags

Type your tag names separated by a space and hit enter

Mutations of the noggin (NOG) and of the activin A type I receptor (ACVR1) genes in a series of twenty-seven French fibrodysplasia ossificans progressiva (FOP) patients.
Genet Couns. 2009; 20(1):53-62.GC

Abstract

Fibrodysplasia ossificans progressiva (FOP) is a rare but very severe disease, characterised by congenital malformations of the toes and by progressive heterotopic ossification of muscles and joints. Two genes, the noggin (NOG) gene and the activin A type I receptor (ACVRI) gene, are involved in FOP. In this study we have searched for the NOG and the 617G>A (ACVR1) mutations in a well characterized series of twenty-seven French FOP patients. Five NOG mutations (delta 42, 274G>C, 275G>A, 276G>A, and 283G>A) have been found in seven (26%) of our FOP patients. The 617G>A mutation in the ACVR1 gene is found in fourteen (52%) of the patients. With one exception (patient number 22), 617G>A and NOG mutations are mutually exclusive in patients. Mutations 274G>C, 283G>A and 617G>A segregate with the trait in five different FOP families, some members of them being partially affected by the disease.

Authors+Show Affiliations

Center of Molecular Neurogenetics, 75005 Paris, France. lucotte@hotmail.comNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

19400542

Citation

Lucotte, G, et al. "Mutations of the Noggin (NOG) and of the Activin a Type I Receptor (ACVR1) Genes in a Series of Twenty-seven French Fibrodysplasia Ossificans Progressiva (FOP) Patients." Genetic Counseling (Geneva, Switzerland), vol. 20, no. 1, 2009, pp. 53-62.
Lucotte G, Houzet A, Hubans C, et al. Mutations of the noggin (NOG) and of the activin A type I receptor (ACVR1) genes in a series of twenty-seven French fibrodysplasia ossificans progressiva (FOP) patients. Genet Couns. 2009;20(1):53-62.
Lucotte, G., Houzet, A., Hubans, C., Lagarde, J. P., & Lenoir, G. (2009). Mutations of the noggin (NOG) and of the activin A type I receptor (ACVR1) genes in a series of twenty-seven French fibrodysplasia ossificans progressiva (FOP) patients. Genetic Counseling (Geneva, Switzerland), 20(1), 53-62.
Lucotte G, et al. Mutations of the Noggin (NOG) and of the Activin a Type I Receptor (ACVR1) Genes in a Series of Twenty-seven French Fibrodysplasia Ossificans Progressiva (FOP) Patients. Genet Couns. 2009;20(1):53-62. PubMed PMID: 19400542.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Mutations of the noggin (NOG) and of the activin A type I receptor (ACVR1) genes in a series of twenty-seven French fibrodysplasia ossificans progressiva (FOP) patients. AU - Lucotte,G, AU - Houzet,A, AU - Hubans,C, AU - Lagarde,J P, AU - Lenoir,G, PY - 2009/4/30/entrez PY - 2009/4/30/pubmed PY - 2009/6/3/medline SP - 53 EP - 62 JF - Genetic counseling (Geneva, Switzerland) JO - Genet Couns VL - 20 IS - 1 N2 - Fibrodysplasia ossificans progressiva (FOP) is a rare but very severe disease, characterised by congenital malformations of the toes and by progressive heterotopic ossification of muscles and joints. Two genes, the noggin (NOG) gene and the activin A type I receptor (ACVRI) gene, are involved in FOP. In this study we have searched for the NOG and the 617G>A (ACVR1) mutations in a well characterized series of twenty-seven French FOP patients. Five NOG mutations (delta 42, 274G>C, 275G>A, 276G>A, and 283G>A) have been found in seven (26%) of our FOP patients. The 617G>A mutation in the ACVR1 gene is found in fourteen (52%) of the patients. With one exception (patient number 22), 617G>A and NOG mutations are mutually exclusive in patients. Mutations 274G>C, 283G>A and 617G>A segregate with the trait in five different FOP families, some members of them being partially affected by the disease. SN - 1015-8146 UR - https://www.unboundmedicine.com/medline/citation/19400542/Mutations_of_the_noggin__NOG__and_of_the_activin_A_type_I_receptor__ACVR1__genes_in_a_series_of_twenty_seven_French_fibrodysplasia_ossificans_progressiva__FOP__patients_ L2 - http://www.diseaseinfosearch.org/result/2849 DB - PRIME DP - Unbound Medicine ER -