{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T17:42:15Z","timestamp":1791999735829,"version":"4.4.0"},"reference-count":0,"publisher":"Maad Rayan Publishing Company","issue":"12","content-domain":{"domain":["www.aimjournal.ir"],"crossmark-restriction":false},"short-container-title":["Arch Iran Med"],"abstract":"<jats:p>\n            <jats:bold>Background:<\/jats:bold> Recently, we have reported mutations in <jats:italic>LARP7<\/jats:italic> gene, leading to neurodevelopmental disorders (NDDs), the most frequent cause of disability in children with a broad phenotype spectrum and diverse genetic landscape. <jats:italic><jats:bold>Methods: <\/jats:bold><\/jats:italic>Here, we present two Iranian patients from consanguineous families with syndromic intellectual disability, facial dysmorphism, and short stature. <jats:bold>Results: <\/jats:bold>Whole-exome sequencing (WES) revealed a novel homozygous stop-gain (c.C925T, p.R309X) variant and a previously known homozygous acceptor splice-site (c.1669-1_1671del) variant in <jats:italic>LARP7<\/jats:italic> gene, indicating the diagnosis of Alazami syndrome. <jats:italic>Conclusion: <\/jats:italic>These identified variants in patients with Alazami syndrome were consistent with previously reported loss of function variants in <jats:italic>LARP7<\/jats:italic> and provide further evidence that loss of function of <jats:italic>LARP7<\/jats:italic> is the disease mechanism.<\/jats:p>","DOI":"10.34172\/aim.2020.112","type":"journal-article","created":{"date-parts":[[2020,12,10]],"date-time":"2020-12-10T16:42:47Z","timestamp":1607618567000},"page":"842-847","update-policy":"https:\/\/doi.org\/10.34172\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Novel Mutation in <i>LARP7<\/i> in Two Iranian Consanguineous Families with Syndromic Intellectual Disability and Facial Dysmorphism"],"prefix":"10.34172","volume":"23","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8306-818X","authenticated-orcid":true,"given":"Goli","family":"Kazemi","sequence":"first","affiliation":[{"name":"Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fatemeh","family":"Peymani","sequence":"additional","affiliation":[{"name":"Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marzieh","family":"Mohseni","sequence":"additional","affiliation":[{"name":"Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran"},{"name":"Student Research Committee, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Farzane","family":"Zare Ashrafi","sequence":"additional","affiliation":[{"name":"Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sanaz","family":"Arzhangi","sequence":"additional","affiliation":[{"name":"Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fariba","family":"Ardalani","sequence":"additional","affiliation":[{"name":"Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fatemeh","family":"Aghakhani Moghaddam","sequence":"additional","affiliation":[{"name":"Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kimia","family":"Kahrizi","sequence":"additional","affiliation":[{"name":"Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6084-7778","authenticated-orcid":true,"given":"Hossein","family":"Najmabadi","sequence":"additional","affiliation":[{"name":"Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"20123","published-online":{"date-parts":[[2020,12,1]]},"container-title":["Archives of Iranian Medicine"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.aimjournal.ir\/PDF\/aim-23-842.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.aimjournal.ir\/PDF\/aim-23-842.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,12,10]],"date-time":"2020-12-10T16:42:47Z","timestamp":1607618567000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.aimjournal.ir\/Article\/aim-17610"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,12,1]]},"references-count":0,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2020,12]]}},"URL":"https:\/\/doi.org\/10.34172\/aim.2020.112","relation":{},"ISSN":["1029-2977","1735-3947"],"issn-type":[{"value":"1029-2977","type":"print"},{"value":"1735-3947","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,12,1]]},"assertion":[{"value":"Academy of Medical Sciences of the I.R. Iran","name":"journal_owner","label":"Journal Owner"},{"value":"Academy of Medical Sciences of the I.R. Iran","name":"journal_publisher","label":"Journal Publisher"}]}}