title: Mutation Detection in Activin A Receptor, Type I (ACVR1) Gene in Fibrodysplasia Ossificans Progressiva in An Iranian Family.
abstract: Fibrodysplasia Ossificans Progressiva (FOP, MIM 135100) is a rare genetic disease that is often inherited sporadically in an autosomal dominant pattern. The disease manifests in early life with malformed great toes and, its episodic and progressive bone formation in skeletal muscle after trauma is led to extra-articular ankylosis. In this study, a 17 year-old affected girl born to a father with chemical injury due to exposure to Mustard gas during the Iran-Iraq war, and her first degree relatives were examined to find the genetic cause of the disease. The mutation c.617G>A in the Activin A receptor, type I (ACVR1) gene was found in all previously reported patients with FOP. Therefore, peripheral blood samples were taken from the patient and her first-degree relatives. DNA was extracted and PCR amplification for ACVR1 was performed. The sequencing of ACVR1 showed the existence of the heterozygous c.617G>A mutation in the patient and the lack of it in her relatives. Normal result of genetic evaluation in relatives of the patient, ruled out the possibility of the mutation being inherited from parents. Therefore, the mutation causing disease in the child, whether is a new mutation with no relation to the father's exposure to chemical gas, or in case of somatic mutation due to exposure to chemical gas, the mutant cells were created in father's germ cells and were not detectable in his blood sample.
authors: Molecular Biology Research Center, Baqiyatallah University of Medical Sciences, Tehran, Iran.
authors: Ziba
authors: Z
authors: Morovvati
authors: Molecular Biology Research Center, Baqiyatallah University of Medical Sciences, Tehran, Iran.
authors: Saeid
authors: S
authors: Morovvati
authors: Faculty of Medicine, Baqiyatallah University of Medical Sciences, Tehran, Iran.
authors: Gholamhossein
authors: G
authors: Alishiri
authors: School of Biology, Islamic Azad University Tehran Medical Branch, Tehran, Iran.
authors: Seyed Hossein
authors: SH
authors: Moosavi
authors: Molecular Biology Research Center, Baqiyatallah University of Medical Sciences, Tehran, Iran.
authors: Reza
authors: R
authors: Ranjbar
authors: Student Research Center, Baqiyatallah University of Medical Sciences, Tehran, Iran.
authors: Yaser
authors: Y
authors: Bolouki Moghaddam
keywords: ACVR1; FOP; c.617G>A Mutation