{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T14:41:58Z","timestamp":1790779318887,"version":"4.1.0"},"reference-count":18,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2017,8,4]],"date-time":"2017-08-04T00:00:00Z","timestamp":1501804800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003478","name":"Ministry of Health, Labour and Welfare","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003478","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001700","name":"Ministry of Education, Culture, Sports, Science and Technology","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001700","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2017,10]]},"abstract":"<jats:sec><jats:label\/><jats:p>Intellectual disability (ID) is one of neurodevelopmental disorders characterized by serious defects in both intelligence and adaptive behavior. Although it has been suggested that genetic aberrations associated with the process of cell division underlie ID, the cytological evidence for mitotic defects in actual patient's cells is rarely reported. Here, we report a novel mutation in the <jats:italic>STARD9<\/jats:italic> (also known as <jats:italic>KIF16A<\/jats:italic>) gene found in a patient with severe ID, characteristic features, epilepsy, acquired microcephaly, and blindness. Using whole\u2010exome sequence analysis, we sequenced potential candidate genes in the patient. We identified a homozygous single\u2010nucleotide deletion creating a premature stop codon in the <jats:italic>STARD9<\/jats:italic> gene. STARD9 encodes a 4,700 amino acid protein belonging to the kinesin superfamily. Depletion of STARD9 or overexpression of C\u2010terminally truncated STARD9 mutants were known to induce spindle assembly defects in human culture cells. To determine cytological features in the patient cells, we isolated lymphoblast cells from the patient, and performed immunofluorescence analysis. Remarkably, mitotic defects, including multipolar spindle formation, fragmentation of pericentriolar materials and centrosome amplification, were observed in the cells. Taken together, our findings raise the possibility that controlled expression of full\u2010length STARD9 is necessary for proper spindle assembly in cell division during human development. We propose that mutations in <jats:italic>STARD9<\/jats:italic> result in abnormal spindle morphology and cause a novel genetic syndrome with ID.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38391","type":"journal-article","created":{"date-parts":[[2017,8,4]],"date-time":"2017-08-04T13:52:40Z","timestamp":1501854760000},"page":"2690-2696","source":"Crossref","is-referenced-by-count":13,"title":["A novel genetic syndrome with <i>STARD9<\/i> mutation and abnormal spindle morphology"],"prefix":"10.1002","volume":"173","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5415-656X","authenticated-orcid":false,"given":"Nobuhiko","family":"Okamoto","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Osaka Women's and Children's Hospital Izumi Osaka Japan"},{"name":"Department of Molecular Medicine Osaka Women's and Children's Hospital Izumi Osaka Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuki","family":"Tsuchiya","sequence":"additional","affiliation":[{"name":"National Institute of Genetics Department of Molecular Genetics, Division of Centrosome Biology Mishima Shizuoka Japan"},{"name":"Department of Genetics, School of Life Science The Graduate University for Advanced Studies (SOKENDAI) Mishima Shizuoka Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fuyuki","family":"Miya","sequence":"additional","affiliation":[{"name":"Department of Medical Science Mathematics, Medical Research Institute Tokyo Medical and Dental University Tokyo Japan"},{"name":"Laboratory for Medical Science Mathematics Center for Integrative Medical Sciences RIKEN Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tatsuhiko","family":"Tsunoda","sequence":"additional","affiliation":[{"name":"Department of Medical Science Mathematics, Medical Research Institute Tokyo Medical 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