{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,7]],"date-time":"2026-09-07T20:40:54Z","timestamp":1788813654203,"version":"build-2803163510"},"reference-count":25,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2021,8,3]],"date-time":"2021-08-03T00:00:00Z","timestamp":1627948800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Kinesin super family (KIF) genes encode motor kinesins, a family of evolutionary conserved proteins, involved in intracellular trafficking of various cargoes. These proteins are critical for various physiological processes including neuron function and survival, ciliary function and ciliogenesis, and cell\u2010cycle progression. Recent evidence suggests that alterations in motor kinesin genes can lead to a variety of human diseases, including monogenic disorders. Neuropathies, impaired higher brain functions, structural brain abnormalities and multiple congenital anomalies (i.e., renal, urogenital, and limb anomalies) can result from pathogenic variants in many\n                    <jats:italic>KIF<\/jats:italic>\n                    genes. We expand the phenotype associated with\n                    <jats:italic>KIF4A<\/jats:italic>\n                    variants from developmental delay and intellectual disability with or without epilepsy to a congenital anomaly phenotype with hydrocephalus and various brain anomalies at the more severe end of phenotypic manifestations. Additional anomalies of the kidneys and urinary tract, congenital lymphedema, eye, and dental anomalies seem to be variably associated and overlap with clinical signs observed in other kinesinopathies. Caution still applies to missense variants, but hopefully, future work will further establish genotype\u2013phenotype correlations in a larger number of patients and functional studies may give further insights into the complex function of KIF4A.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.62443","type":"journal-article","created":{"date-parts":[[2021,8,4]],"date-time":"2021-08-04T01:16:08Z","timestamp":1628039768000},"page":"3728-3739","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Expanding the\n                    <scp>\n                      <i>KIF4A<\/i>\n                    <\/scp>\n                    \u2010associated phenotype"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9459-9741","authenticated-orcid":false,"given":"Silvia","family":"Kalantari","sequence":"first","affiliation":[{"name":"Medical Genetics, Institute of Medical Genetics and Pathology University Hospital Basel  Basel Switzerland"},{"name":"Department of Clinical Research University Hospital Basel  Basel Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2901-8610","authenticated-orcid":false,"given":"Colleen","family":"Carlston","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics Boston Children's Hospital  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4381-7929","authenticated-orcid":false,"given":"Norah","family":"Alsaleh","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics and Metabolic Medicine, Department of Pediatrics Prince Sultan Military Medical City  Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2893-8802","authenticated-orcid":false,"given":"Ghada M. H.","family":"Abdel\u2010Salam","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Human Genetics and Genome Research Division National Research Centre  Cairo Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4158-341X","authenticated-orcid":false,"given":"Fowzan","family":"Alkuraya","sequence":"additional","affiliation":[{"name":"Department of Translational Genomics, Center for Genomic Medicine King Faisal Specialist Hospital and Research Center  Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mitsuhiro","family":"Kato","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Showa University School of Medicine  Shinagawa\u2010ku Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9846-6500","authenticated-orcid":false,"given":"Naomichi","family":"Matsumoto","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Yokohama City University, Graduate School of Medicine  Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Satoko","family":"Miyatake","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Yokohama City University, Graduate School of Medicine  Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1277-5298","authenticated-orcid":false,"given":"Tatsuya","family":"Yamamoto","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Hirosaki University School of Medicine  Hirosaki Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4613-0711","authenticated-orcid":false,"given":"Lucas","family":"Fares\u2010Taie","sequence":"additional","affiliation":[{"name":"INSERM UMR1163, Imagine \u2013 Institute of Genetic Diseases Paris Descartes University  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7951-7886","authenticated-orcid":false,"given":"Jean\u2010Michel","family":"Rozet","sequence":"additional","affiliation":[{"name":"INSERM UMR1163, Imagine \u2013 Institute of Genetic Diseases Paris Descartes University  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicolas","family":"Chassaing","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics CHU Toulouse, Purpan Hospital  Toulouse France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Vincent\u2010Delorme","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics CHU Lille  Lille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anjeung","family":"Kang\u2010Bellin","sequence":"additional","affiliation":[{"name":"Centre for Prenatal Ultrasound  Basel Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kirsty","family":"McWalter","sequence":"additional","affiliation":[{"name":"GeneDx, 207 Perry Parkway  Gaithersburg Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4255-0396","authenticated-orcid":false,"given":"Caleb","family":"Bupp","sequence":"additional","affiliation":[{"name":"Spectrum Health  Grand Rapids Michigan USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emily","family":"Palen","sequence":"additional","affiliation":[{"name":"Autism &amp; Developmental Medicine Institute  Danville Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monisa D.","family":"Wagner","sequence":"additional","affiliation":[{"name":"Autism &amp; Developmental Medicine Institute  Danville Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4766-7753","authenticated-orcid":false,"given":"Marcello","family":"Niceta","sequence":"additional","affiliation":[{"name":"Genetics and Rare Diseases Research Division Bambino Ges\u00f9 Children's Hospital, IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6305-3316","authenticated-orcid":false,"given":"Claudia","family":"Cesario","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics Bambino Ges\u00f9 Children's Hospital, IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberta","family":"Milone","sequence":"additional","affiliation":[{"name":"Department of Developmental Neuroscience IRCCS Fondazione Stella Maris, Calambrone  Pisa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie","family":"Kaplan","sequence":"additional","affiliation":[{"name":"Division of Genetics, Department of Pediatrics Nemours\/Alfred I. 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