Mutation Detection in Activin A Receptor, Type I (ACVR1) Gene in Fibrodysplasia Ossificans Progressiva in An Iranian Family
Identifieur interne : 002800 ( Main/Exploration ); précédent : 002799; suivant : 002801Mutation Detection in Activin A Receptor, Type I (ACVR1) Gene in Fibrodysplasia Ossificans Progressiva in An Iranian Family
Auteurs : Ziba Morovvati [Iran] ; Saeid Morovvati [Iran] ; Gholamhossein Alishiri Alishiri [Iran] ; Seyed Hossein Moosavi [Iran] ; Reza Ranjbar [Iran] ; Yaser Bolouki Moghaddam [Iran]Source :
- Cell Journal (Yakhteh) [ 2228-5806 ] ; 2014.
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 (
Url:
PubMed: 24518978
PubMed Central: 3933443
Affiliations:
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(<italic>ACVR1</italic>) Gene in Fibrodysplasia Ossificans
Progressiva in An Iranian Family</title><author><name sortKey="Morovvati, Ziba" sort="Morovvati, Ziba" uniqKey="Morovvati Z" first="Ziba" last="Morovvati">Ziba Morovvati</name><affiliation wicri:level="1"><nlm:aff id="A1">Molecular Biology Research Center, Baqiyatallah University of Medical Sciences, Tehran, Iran</nlm:aff><country xml:lang="fr">Iran</country><wicri:regionArea>Molecular Biology Research Center, Baqiyatallah University of Medical Sciences, Tehran</wicri:regionArea><wicri:noRegion>Tehran</wicri:noRegion></affiliation></author><author><name sortKey="Morovvati, Saeid" sort="Morovvati, Saeid" uniqKey="Morovvati S" first="Saeid" last="Morovvati">Saeid Morovvati</name><affiliation wicri:level="1"><nlm:aff id="A1">Molecular Biology Research Center, Baqiyatallah University of Medical Sciences, Tehran, Iran</nlm:aff><country xml:lang="fr">Iran</country><wicri:regionArea>Molecular Biology Research Center, Baqiyatallah University of Medical Sciences, Tehran</wicri:regionArea><wicri:noRegion>Tehran</wicri:noRegion></affiliation></author><author><name sortKey="Alishiri, Gholamhossein Alishiri" sort="Alishiri, Gholamhossein Alishiri" uniqKey="Alishiri G" first="Gholamhossein Alishiri" last="Alishiri">Gholamhossein Alishiri Alishiri</name><affiliation wicri:level="1"><nlm:aff id="A2">Faculty of Medicine, Baqiyatallah University of Medical Sciences, Tehran, Iran</nlm:aff><country xml:lang="fr">Iran</country><wicri:regionArea>Faculty of Medicine, Baqiyatallah University of Medical Sciences, Tehran</wicri:regionArea><wicri:noRegion>Tehran</wicri:noRegion></affiliation></author><author><name sortKey="Moosavi, Seyed Hossein" sort="Moosavi, Seyed Hossein" uniqKey="Moosavi S" first="Seyed Hossein" last="Moosavi">Seyed Hossein Moosavi</name><affiliation wicri:level="1"><nlm:aff id="A3">School of Biology, Islamic Azad University Tehran Medical Branch, Tehran, Iran</nlm:aff><country xml:lang="fr">Iran</country><wicri:regionArea>School of Biology, Islamic Azad University Tehran Medical Branch, Tehran</wicri:regionArea><wicri:noRegion>Tehran</wicri:noRegion></affiliation></author><author><name sortKey="Ranjbar, Reza" sort="Ranjbar, Reza" uniqKey="Ranjbar R" first="Reza" last="Ranjbar">Reza Ranjbar</name><affiliation wicri:level="1"><nlm:aff id="A1">Molecular Biology Research Center, Baqiyatallah University of Medical Sciences, Tehran, Iran</nlm:aff><country xml:lang="fr">Iran</country><wicri:regionArea>Molecular Biology Research Center, Baqiyatallah University of Medical Sciences, Tehran</wicri:regionArea><wicri:noRegion>Tehran</wicri:noRegion></affiliation></author><author><name sortKey="Bolouki Moghaddam, Yaser" sort="Bolouki Moghaddam, Yaser" uniqKey="Bolouki Moghaddam Y" first="Yaser" last="Bolouki Moghaddam">Yaser Bolouki Moghaddam</name><affiliation wicri:level="1"><nlm:aff id="A4">Student Research Center, Baqiyatallah University of Medical Sciences, Tehran, Iran</nlm:aff><country xml:lang="fr">Iran</country><wicri:regionArea>Student Research Center, Baqiyatallah University of Medical Sciences, Tehran</wicri:regionArea><wicri:noRegion>Tehran</wicri:noRegion></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">24518978</idno><idno type="pmc">3933443</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3933443</idno><idno type="RBID">PMC:3933443</idno><date when="2014">2014</date><idno type="wicri:Area/Pmc/Corpus">002167</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">002167</idno><idno type="wicri:Area/Pmc/Curation">002166</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">002166</idno><idno type="wicri:Area/Pmc/Checkpoint">001976</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">001976</idno><idno type="wicri:Area/Ncbi/Merge">006286</idno><idno type="wicri:Area/Ncbi/Curation">006286</idno><idno type="wicri:Area/Ncbi/Checkpoint">006286</idno><idno type="wicri:doubleKey">2228-5806:2014:Morovvati Z:mutation:detection:in</idno><idno type="wicri:Area/Main/Merge">002804</idno><idno type="wicri:Area/Main/Curation">002800</idno><idno type="wicri:Area/Main/Exploration">002800</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Mutation Detection in Activin A Receptor, Type I
(<italic>ACVR1</italic>) Gene in Fibrodysplasia Ossificans
Progressiva in An Iranian Family</title><author><name sortKey="Morovvati, Ziba" sort="Morovvati, Ziba" uniqKey="Morovvati Z" first="Ziba" last="Morovvati">Ziba Morovvati</name><affiliation wicri:level="1"><nlm:aff id="A1">Molecular Biology Research Center, Baqiyatallah University of Medical Sciences, Tehran, Iran</nlm:aff><country xml:lang="fr">Iran</country><wicri:regionArea>Molecular Biology Research Center, Baqiyatallah University of Medical Sciences, Tehran</wicri:regionArea><wicri:noRegion>Tehran</wicri:noRegion></affiliation></author><author><name sortKey="Morovvati, Saeid" sort="Morovvati, Saeid" uniqKey="Morovvati S" first="Saeid" last="Morovvati">Saeid Morovvati</name><affiliation wicri:level="1"><nlm:aff id="A1">Molecular Biology Research Center, Baqiyatallah University of Medical Sciences, Tehran, Iran</nlm:aff><country xml:lang="fr">Iran</country><wicri:regionArea>Molecular Biology Research Center, Baqiyatallah University of Medical Sciences, Tehran</wicri:regionArea><wicri:noRegion>Tehran</wicri:noRegion></affiliation></author><author><name sortKey="Alishiri, Gholamhossein Alishiri" sort="Alishiri, Gholamhossein Alishiri" uniqKey="Alishiri G" first="Gholamhossein Alishiri" last="Alishiri">Gholamhossein Alishiri Alishiri</name><affiliation wicri:level="1"><nlm:aff id="A2">Faculty of Medicine, Baqiyatallah University of Medical Sciences, Tehran, Iran</nlm:aff><country xml:lang="fr">Iran</country><wicri:regionArea>Faculty of Medicine, Baqiyatallah University of Medical Sciences, Tehran</wicri:regionArea><wicri:noRegion>Tehran</wicri:noRegion></affiliation></author><author><name sortKey="Moosavi, Seyed Hossein" sort="Moosavi, Seyed Hossein" uniqKey="Moosavi S" first="Seyed Hossein" last="Moosavi">Seyed Hossein Moosavi</name><affiliation wicri:level="1"><nlm:aff id="A3">School of Biology, Islamic Azad University Tehran Medical Branch, Tehran, Iran</nlm:aff><country xml:lang="fr">Iran</country><wicri:regionArea>School of Biology, Islamic Azad University Tehran Medical Branch, Tehran</wicri:regionArea><wicri:noRegion>Tehran</wicri:noRegion></affiliation></author><author><name sortKey="Ranjbar, Reza" sort="Ranjbar, Reza" uniqKey="Ranjbar R" first="Reza" last="Ranjbar">Reza Ranjbar</name><affiliation wicri:level="1"><nlm:aff id="A1">Molecular Biology Research Center, Baqiyatallah University of Medical Sciences, Tehran, Iran</nlm:aff><country xml:lang="fr">Iran</country><wicri:regionArea>Molecular Biology Research Center, Baqiyatallah University of Medical Sciences, Tehran</wicri:regionArea><wicri:noRegion>Tehran</wicri:noRegion></affiliation></author><author><name sortKey="Bolouki Moghaddam, Yaser" sort="Bolouki Moghaddam, Yaser" uniqKey="Bolouki Moghaddam Y" first="Yaser" last="Bolouki Moghaddam">Yaser Bolouki Moghaddam</name><affiliation wicri:level="1"><nlm:aff id="A4">Student Research Center, Baqiyatallah University of Medical Sciences, Tehran, Iran</nlm:aff><country xml:lang="fr">Iran</country><wicri:regionArea>Student Research Center, Baqiyatallah University of Medical Sciences, Tehran</wicri:regionArea><wicri:noRegion>Tehran</wicri:noRegion></affiliation></author></analytic><series><title level="j">Cell Journal (Yakhteh)</title><idno type="ISSN">2228-5806</idno><idno type="eISSN">2228-5814</idno><imprint><date when="2014">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>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 (<italic>ACVR1</italic>) 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 <italic>ACVR1</italic> was performed. The sequencing of <italic>ACVR1</italic> 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.</p></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Shore, Em" uniqKey="Shore E">EM Shore</name></author><author><name sortKey="Xu, M" uniqKey="Xu M">M Xu</name></author><author><name sortKey="Feldman, Gj" uniqKey="Feldman G">GJ Feldman</name></author><author><name sortKey="Fenstermacher, Da" uniqKey="Fenstermacher D">DA Fenstermacher</name></author><author><name sortKey="Cho, Tj" uniqKey="Cho T">TJ Cho</name></author><author><name sortKey="Choi, Ih" uniqKey="Choi I">IH Choi</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Cohen, Rb" uniqKey="Cohen R">RB Cohen</name></author><author><name sortKey="Hahn, Gv" uniqKey="Hahn G">GV Hahn</name></author><author><name sortKey="Tabas, Ja" uniqKey="Tabas J">JA Tabas</name></author><author><name sortKey="Peeper, J" uniqKey="Peeper J">J Peeper</name></author><author><name 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first="Saeid" last="Morovvati">Saeid Morovvati</name><name sortKey="Ranjbar, Reza" sort="Ranjbar, Reza" uniqKey="Ranjbar R" first="Reza" last="Ranjbar">Reza Ranjbar</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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