{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T14:48:32Z","timestamp":1789915712719,"version":"4.0.1"},"reference-count":16,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2017,10,14]],"date-time":"2017-10-14T00:00:00Z","timestamp":1507939200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["SFB665"],"award-info":[{"award-number":["SFB665"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004681","name":"Higher Education Commission, Pakistan","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004681","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt B"],"published-print":{"date-parts":[[2017,12]]},"abstract":"<jats:sec><jats:label\/><jats:p><jats:italic>TRAPPC9<\/jats:italic> gene mutations have been linked recently to autosomal recessive mental retardation 13 (MRT13; MIM#613192) with only eight families reported world\u2010wide. We assessed patients from two consanguineous pedigrees of Pakistani descent with non\u2010syndromic intellectual disability and postnatal microcephaly through whole exome sequencing (WES) and cosegregation analysis. Here we report six further patients from two pedigrees with homozygous <jats:italic>TRAPPC9<\/jats:italic> gene mutations, the novel nonsense mutation c.2065G&gt;T (p.E689*) and the previously identified nonsense mutation c.1423C&gt;T (p.R475*). We provide an overview of previously reported clinical features and highlight common symptoms and variability of MRT13. Common findings are intellectual disability and absent speech, and frequently microcephaly, motor delay and pathological findings on MRI including diminished cerebral white matter volume are present. Mutations in <jats:italic>TRAPPC9<\/jats:italic> should be considered in non\u2010syndromic autosomal recessive intellectual disability with severe speech disorder.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.b.32602","type":"journal-article","created":{"date-parts":[[2017,10,14]],"date-time":"2017-10-14T12:42:33Z","timestamp":1507984953000},"page":"839-845","source":"Crossref","is-referenced-by-count":32,"title":["Identification of a novel homozygous <i>TRAPPC9<\/i> gene mutation causing non\u2010syndromic intellectual disability, speech disorder, and secondary microcephaly"],"prefix":"10.1002","volume":"174","author":[{"given":"Ansar A.","family":"Abbasi","sequence":"first","affiliation":[{"name":"Department of Zoology Mirpur University of Science and Technology (MUST) Mirpur Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0067-1176","authenticated-orcid":false,"given":"Kathrin","family":"Blaesius","sequence":"additional","affiliation":[{"name":"Charit\u00e9 \u2010 Universit\u00e4tsmedizin Berlin, Institute of Neuroanatomy and Cell Biology Berlin Germany"},{"name":"Berlin Insitute of Health (BIH), Anna\u2010Louisa\u2010Karsch Strasse 2 10178 Berlin Germany"},{"name":"Charit\u00e9 \u2010 Universit\u00e4tsmedizin Berlin, Department of Pediatric Neurology Berlin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hao","family":"Hu","sequence":"additional","affiliation":[{"name":"Guangzhou Women and Children's Medical Center Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zahid","family":"Latif","sequence":"additional","affiliation":[{"name":"Department of Zoology University of Azad Jammu and Kashmir Muzaffarabad Muzaffarabad Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvie","family":"Picker\u2010Minh","sequence":"additional","affiliation":[{"name":"Charit\u00e9 \u2010 Universit\u00e4tsmedizin Berlin, Institute of Neuroanatomy and Cell Biology Berlin Germany"},{"name":"Berlin Insitute of Health (BIH), Anna\u2010Louisa\u2010Karsch Strasse 2 10178 Berlin Germany"},{"name":"Charit\u00e9 \u2010 Universit\u00e4tsmedizin Berlin, Department of Pediatric Neurology Berlin Germany"},{"name":"Department of Pediatric Neurology Charit\u00e9\u2014Universit\u00e4tsmedizin Berlin Berlin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muhammad N.","family":"Khan","sequence":"additional","affiliation":[{"name":"Department of Zoology University of Azad Jammu and Kashmir Muzaffarabad Muzaffarabad Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sundas","family":"Farooq","sequence":"additional","affiliation":[{"name":"Department of Zoology Mirpur University of Science and Technology (MUST) Mirpur Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muzammil A.","family":"Khan","sequence":"additional","affiliation":[{"name":"Gomal Centre of Biochemistry and Biotechnology (GCBB) Gomal University Dera Ismail Khan Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela M.","family":"Kaindl","sequence":"additional","affiliation":[{"name":"Charit\u00e9 \u2010 Universit\u00e4tsmedizin Berlin, Institute of Neuroanatomy and Cell Biology Berlin Germany"},{"name":"Berlin Insitute of Health (BIH), Anna\u2010Louisa\u2010Karsch Strasse 2 10178 Berlin Germany"},{"name":"Charit\u00e9 \u2010 Universit\u00e4tsmedizin Berlin, Department of Pediatric Neurology Berlin Germany"},{"name":"Department of Pediatric Neurology Charit\u00e9\u2014Universit\u00e4tsmedizin Berlin Berlin 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