An Activin Receptor IA/Activin-Like Kinase-2 (R206H) Mutation in Fibrodysplasia Ossificans Progressiva
Fibrodysplasia ossificans progressiva (FOP) is an exceptionally rare genetic disease that is characterised by congenital malformations of the great toes and progressive heterotopic ossification (HO) in specific anatomical areas.This disease is caused by a mutation in activin receptor IA/activin-like...
| Autores: | , , , , , , , |
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| Tipo de recurso: | artículo |
| Estado: | Versión publicada |
| Fecha de publicación: | 2013 |
| País: | México |
| Institución: | Universidad Autónoma de Zacatecas |
| Repositorio: | Repositorio Institucional Caxcán |
| Idioma: | inglés |
| OAI Identifier: | oai:http://ricaxcan.uaz.edu.mx:20.500.11845/2178 |
| Acceso en línea: | http://ricaxcan.uaz.edu.mx/jspui/handle/20.500.11845/2178 https://doi.org/10.48779/pp03-0f79 |
| Access Level: | acceso abierto |
| Palabra clave: | MEDICINA Y CIENCIAS DE LA SALUD [3] Fibrodysplasia ossificans progressiva congenital malformations progressive heterotopic ossification |
| Sumario: | Fibrodysplasia ossificans progressiva (FOP) is an exceptionally rare genetic disease that is characterised by congenital malformations of the great toes and progressive heterotopic ossification (HO) in specific anatomical areas.This disease is caused by a mutation in activin receptor IA/activin-like kinase-2 (ACVR1/ALK2). A Mexican family with one member affected by FOP was studied. The patient is a 19-year-old female who first presented with symptoms of FOP at 8 years old; she developed spontaneous and painful swelling of the right scapular area accompanied by functional limitation of movement. Mutation analysis was performed in which genomic DNA as PCR amplified using primers flanking exons 4 and 6, and PCR products were digested with Cac8I and HphI restriction enzymes.The most informative results were obtained with the exon 4 flanking primers and the Cac8I restriction enzyme, which generated a 253 bp product that carries the ACVR1 617G>A mutation, which causes an amino acid substitution of histidine for arginine at position 206 of the glycine-serine (GS) domain, and its mutation results in the dysregulation of bone morphogenetic protein (BMP) signalling that causes FOP |
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