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Information Journal Paper

Title

CASE REPORT: MUTATION DETECTION IN ACTIVIN A RECEPTOR, TYPE I (ACVR1) GENE IN FIBRODYSPLASIA OSSIFICANS PROGRESSIVA IN AN IRANIAN FAMILY

Pages

  91-94

Keywords

FOP 

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.

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    Cite

    APA: Copy

    MOROVVATI, ZIBA, MOROVVATI, SAEID, ALISHIRI, GHOLAM HOSSEIN, MOUSAVI, SEYED HOSSEIN, RANJBAR, REZA, & BOLOUKI MOGHADDAM, YASER. (2014). CASE REPORT: MUTATION DETECTION IN ACTIVIN A RECEPTOR, TYPE I (ACVR1) GENE IN FIBRODYSPLASIA OSSIFICANS PROGRESSIVA IN AN IRANIAN FAMILY. CELL JOURNAL (YAKHTEH), 16(1 (61)), 91-94. SID. https://sid.ir/paper/658363/en

    Vancouver: Copy

    MOROVVATI ZIBA, MOROVVATI SAEID, ALISHIRI GHOLAM HOSSEIN, MOUSAVI SEYED HOSSEIN, RANJBAR REZA, BOLOUKI MOGHADDAM YASER. CASE REPORT: MUTATION DETECTION IN ACTIVIN A RECEPTOR, TYPE I (ACVR1) GENE IN FIBRODYSPLASIA OSSIFICANS PROGRESSIVA IN AN IRANIAN FAMILY. CELL JOURNAL (YAKHTEH)[Internet]. 2014;16(1 (61)):91-94. Available from: https://sid.ir/paper/658363/en

    IEEE: Copy

    ZIBA MOROVVATI, SAEID MOROVVATI, GHOLAM HOSSEIN ALISHIRI, SEYED HOSSEIN MOUSAVI, REZA RANJBAR, and YASER BOLOUKI MOGHADDAM, “CASE REPORT: MUTATION DETECTION IN ACTIVIN A RECEPTOR, TYPE I (ACVR1) GENE IN FIBRODYSPLASIA OSSIFICANS PROGRESSIVA IN AN IRANIAN FAMILY,” CELL JOURNAL (YAKHTEH), vol. 16, no. 1 (61), pp. 91–94, 2014, [Online]. Available: https://sid.ir/paper/658363/en

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