{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,9]],"date-time":"2026-09-09T19:11:31Z","timestamp":1788981091778,"version":"build-2803163510"},"reference-count":13,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2017,12,20]],"date-time":"2017-12-20T00:00:00Z","timestamp":1513728000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100008982","name":"Qatar National Research Fund","doi-asserted-by":"publisher","award":["NPRP4\u2010099\u20103\u2010039"],"award-info":[{"award-number":["NPRP4\u2010099\u20103\u2010039"]}],"id":[{"id":"10.13039\/100008982","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2018,2]]},"abstract":"<jats:p>We report a consanguineous Arab family\u2009with 3 affected siblings who display a disorder of global developmental delay, learning difficulties, facial dysmorphism, hearing impairments, and cataract. The clinical phenotype was associated with characteristic brain magnetic resonance imaging (<jats:styled-content style=\"fixed-case\">MRI<\/jats:styled-content>) features of axonal guidance defects involving anterior commissure agenesis as well as scattered areas of polymicrogyria\u2010cobblestone complex. Whole genome sequencing revealed a novel nonsense mutation (<jats:styled-content style=\"fixed-case\">159609921C<\/jats:styled-content>&gt;T) that segregated in the family consistent in an autosomal recessive pattern. This mutation located in the C\u2010terminal region shared by the Schwanomin\u2010Interacting Protein1 (<jats:styled-content style=\"fixed-case\">SCHIP1<\/jats:styled-content>) isoforms including the <jats:styled-content style=\"fixed-case\">IQCJ\u2010SCHIP1<\/jats:styled-content>. The in vitro expression of <jats:styled-content style=\"fixed-case\">SCHIP1<\/jats:styled-content> and <jats:styled-content style=\"fixed-case\">IQCJ\u2010SCHIP1<\/jats:styled-content> truncated mutant isoforms (NM_001197109.1; p.<jats:styled-content style=\"fixed-case\">R209<\/jats:styled-content>* and NM_001197114.1; p.<jats:styled-content style=\"fixed-case\">R501<\/jats:styled-content>*, respectively) were markedly reduced as compared to their full\u2010length versions suggesting protein stability\/folding impairment. The pathogenic nature of this mutation is supported by a previously reported mouse knockout of <jats:italic>Schip1 isoforms<\/jats:italic>, which phenocopied the human axon guidance abnormality. This\u2009is the first report of a <jats:italic><jats:styled-content style=\"fixed-case\">SCHIP1<\/jats:styled-content>\/<jats:styled-content style=\"fixed-case\">IQCJ\u2010SCHIP1<\/jats:styled-content><\/jats:italic> point mutation in humans associated with a neurological\u2010developmental phenotype.<\/jats:p>","DOI":"10.1111\/cge.13122","type":"journal-article","created":{"date-parts":[[2017,8,8]],"date-time":"2017-08-08T15:07:43Z","timestamp":1502204863000},"page":"387-391","source":"Crossref","is-referenced-by-count":6,"title":["Homozygous nonsense mutation in <scp>SCHIP1<\/scp>\/<scp>IQCJ\u2010SCHIP1<\/scp> causes a neurodevelopmental brain malformation syndrome"],"prefix":"10.1111","volume":"93","author":[{"given":"M.F.","family":"Elsaid","sequence":"first","affiliation":[{"name":"Department of Neuropediatrics, Hamad Medical Corporation  Doha Qatar"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Chalhoub","sequence":"additional","affiliation":[{"name":"Neurogenetics Lab Weill Cornell Medicine  Doha Qatar"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Ben\u2010Omran","sequence":"additional","affiliation":[{"name":"Department of Clinical and Metabolic Genetics, Hamad Medical Corporation  Doha Qatar"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Kamel","sequence":"additional","affiliation":[{"name":"Department of Radiology Hamad Medical Corporation  Doha Qatar"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"AL Mureikhi","sequence":"additional","affiliation":[{"name":"Department of Clinical and Metabolic Genetics, Hamad Medical Corporation  Doha Qatar"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Ibrahim","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics, Hamad Medical Corporation  Doha Qatar"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Elizabeth Ross","sequence":"additional","affiliation":[{"name":"BMRI Center for Neurogenetics and Department of Neurology, Weill Cornell Medicine  NY New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5137-3382","authenticated-orcid":false,"given":"A.K.","family":"Abdel Aleem","sequence":"additional","affiliation":[{"name":"Neurogenetics Lab Weill Cornell Medicine  Doha Qatar"},{"name":"BMRI Center for Neurogenetics and Department of Neurology, Weill Cornell Medicine  NY New York"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,12,20]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.20.5.1699-1712.2000"},{"key":"e_1_2_7_3_1","doi-asserted-by":"crossref","first-page":"2026","DOI":"10.1242\/dev.119248","article-title":"The cytoskeleton\u2010associated protein SCHIP1 is involved in axon guidance, and is required for piriform cortex and anterior commissure development","volume":"142","author":"Klingler 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