{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:25:18Z","timestamp":1786976718829,"version":"build-2736575974"},"reference-count":35,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2018,8,27]],"date-time":"2018-08-27T00:00:00Z","timestamp":1535328000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000069","name":"National Institute of Arthritis and Musculoskeletal and Skin Diseases","doi-asserted-by":"publisher","award":["1R01AR068429\u201001"],"award-info":[{"award-number":["1R01AR068429\u201001"]}],"id":[{"id":"10.13039\/100000069","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000071","name":"National Institute of Child Health and Human Development","doi-asserted-by":"publisher","award":["U19HD077671"],"award-info":[{"award-number":["U19HD077671"]}],"id":[{"id":"10.13039\/100000071","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000057","name":"National Institute of General Medical Sciences","doi-asserted-by":"publisher","award":["1R35GM119574\u201001"],"award-info":[{"award-number":["1R35GM119574\u201001"]}],"id":[{"id":"10.13039\/100000057","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["T32GM007748"],"award-info":[{"award-number":["T32GM007748"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2018,12]]},"abstract":"<jats:p>\n                    KIF26B is a member of the kinesin superfamily with evolutionarily conserved functions in controlling aspects of embryogenesis, including the development of the nervous system, though its function is incompletely understood. We describe an infant with progressive microcephaly, pontocerebellar hypoplasia, and arthrogryposis secondary to the involvement of anterior horn cells and ventral (motor) nerves. We performed whole exome sequencing on the trio and identified a de novo\n                    <jats:italic>KIF26B<\/jats:italic>\n                    missense variant, p.Gly546Ser, in the proband. This variant alters a highly conserved amino acid residue that is part of the phosphate\u2010binding loop motif and motor\u2010like domain and is deemed pathogenic by several in silico methods. Functional analysis of the variant protein in cultured cells revealed a reduction in the KIF26B protein's ability to promote cell adhesion, a defect that potentially contributes to its pathogenicity. Overall, KIF26B may play a critical role in the brain development and, when mutated, cause pontocerebellar hypoplasia with arthrogryposis.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.40493","type":"journal-article","created":{"date-parts":[[2018,8,28]],"date-time":"2018-08-28T07:07:21Z","timestamp":1535440041000},"page":"2623-2629","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":26,"title":["De novo variant in KIF26B is associated with pontocerebellar hypoplasia with infantile spinal muscular atrophy"],"prefix":"10.1002","volume":"176","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8162-5031","authenticated-orcid":false,"given":"Monica H.","family":"Wojcik","sequence":"first","affiliation":[{"name":"Division of Newborn Medicine Boston Children's Hospital, Harvard Medical School  Boston Massachusetts"},{"name":"Division of Genetics and Genomics Boston Children's Hospital, Harvard Medical School  Boston Massachusetts"},{"name":"The Manton Center for Orphan Disease Research Boston Children's Hospital, Harvard Medical School  Boston Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kyoko","family":"Okada","sequence":"additional","affiliation":[{"name":"Department of Cell Biology and Human Anatomy University of California Davis School of Medicine  Davis California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sanjay P.","family":"Prabhu","sequence":"additional","affiliation":[{"name":"Neuroradiology Division, Department of Radiology Boston Children's Hospital, Harvard Medical School  Boston Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dan W.","family":"Nowakowski","sequence":"additional","affiliation":[{"name":"N Molecular Systems, Inc.  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