{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T06:33:33Z","timestamp":1780554813501,"version":"3.54.1"},"reference-count":31,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2021,1,29]],"date-time":"2021-01-29T00:00:00Z","timestamp":1611878400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Pathogenic mutations in <jats:italic>TRAPPC9<\/jats:italic> are associated with autosomal recessive Intellectual Disability (ID), a major public health issue that affects about 1\u20133% of children worldwide.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>Clinical evaluation, magnetic resonance imaging, peripheral blood karyotype, Multiplex ligation\u2010dependent probe amplification (MLPA), array CGH, and whole\u2010exome sequencing were used to characterize etiology in three patients from two unrelated consanguineous families of Iranian descent with intellectual disability.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Whole\u2010exome sequencing showed two novel homozygous nonsense mutations (c.937C&gt;T) in exon 3 and (c.3103C&gt;T) in exon 19 of <jats:italic>TRAPPC9<\/jats:italic> (NM_031466.7) in two unrelated consanguineous families.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The two novel variants found in <jats:italic>TRAPPC9<\/jats:italic> caused truncated protein and clinical manifestations such as ID, developmental delay, microcephaly, and brain abnormalities in three patients.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1610","type":"journal-article","created":{"date-parts":[[2021,1,29]],"date-time":"2021-01-29T18:21:37Z","timestamp":1611944497000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Identification of two novel homozygous nonsense mutations in <i>TRAPPC9<\/i> in two unrelated consanguineous families with intellectual Disability from Iran"],"prefix":"10.1002","volume":"9","author":[{"given":"Farideh","family":"Yousefipour","sequence":"first","affiliation":[{"name":"National Institute of Genetic Engineering and Biotechnology Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9873-914X","authenticated-orcid":false,"given":"Hossein","family":"Mozhdehipanah","sequence":"additional","affiliation":[{"name":"Department of Neurology Bou Ali Sina Hospital Qazvin University of Medical Sciences Qazvin Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frouzandeh","family":"Mahjoubi","sequence":"additional","affiliation":[{"name":"National Institute of Genetic Engineering and Biotechnology Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,1,29]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.32602"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.98"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/0471142905.hg0720s76"},{"issue":"11","key":"e_1_2_8_5_1","first-page":"1115","article-title":"Diagnosis of a case with mental retardation due to novel compound heterozygous variants of TRAPPC9 gene","volume":"36","author":"Bai Z.","year":"2019","journal-title":"Zhonghua Yi Xue Yi Chuan Xue Za Zhi= Zhonghua Yixue Yichuanxue Zazhi= Chinese Journal of Medical Genetics"},{"key":"e_1_2_8_6_1","volume-title":"FastQC: a quality control tool for high throughput sequence data","author":"Bittencourt a S.","year":"2010"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btv195"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature15393"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.0148-08.2008"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature11690"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37649"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddv286"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2019.00061"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M501670200"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2012.08.010"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33319"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature19057"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp324"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2012.79"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ridd.2010.12.018"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.107524.110"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.11.009"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.10.027"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-017-0018-x"},{"key":"e_1_2_8_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tig.2013.09.008"},{"key":"e_1_2_8_26_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkg509"},{"key":"e_1_2_8_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.11.007"},{"key":"e_1_2_8_28_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.097857.109"},{"key":"e_1_2_8_29_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_8_30_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth.2890"},{"key":"e_1_2_8_31_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkq603"},{"key":"e_1_2_8_32_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1211"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1610","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mgg3.1610","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1610","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,28]],"date-time":"2023-08-28T04:51:07Z","timestamp":1693198267000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.1610"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,1,29]]},"references-count":31,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2021,12]]}},"alternative-id":["10.1002\/mgg3.1610"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.1610","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"value":"2324-9269","type":"print"},{"value":"2324-9269","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,1,29]]},"assertion":[{"value":"2020-07-16","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-12-21","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-01-29","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e1610"}}