{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T08:05:16Z","timestamp":1790064316632,"version":"4.0.1"},"reference-count":18,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2017,8,25]],"date-time":"2017-08-25T00:00:00Z","timestamp":1503619200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"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>Disorders of brain formation can occur from pathogenic variants in various alpha and beta tubulin genes. Heterozygous pathogenic variants in the beta tubulin isotype A gene, <jats:italic>TUBB2A<\/jats:italic>, have been recently implicated in brain malformations, seizures, and developmental delay. Limited information is known regarding the phenotypic spectrum associated with pathogenic variants in this gene given the rarity of the condition. We report the sixth individual with a de novo heterozygous <jats:italic>TUBB2A<\/jats:italic> pathogenic variant, who presented with a severe neurological phenotype along with unique features of arthrogryposis multiplex congenita, optic nerve hypoplasia, dysmorphic facial features, and vocal cord paralysis, thereby expanding the gene\u2010related phenotype.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38352","type":"journal-article","created":{"date-parts":[[2017,8,25]],"date-time":"2017-08-25T06:13:55Z","timestamp":1503641635000},"page":"2725-2730","source":"Crossref","is-referenced-by-count":20,"title":["De novo pathogenic variant in <i>TUBB2A<\/i> presenting with arthrogryposis multiplex congenita, brain abnormalities, and severe developmental delay"],"prefix":"10.1002","volume":"173","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3958-1653","authenticated-orcid":false,"given":"Resham","family":"Ejaz","sequence":"first","affiliation":[{"name":"Division of Clinical and Metabolic Genetics Department of Paediatrics The Hospital for Sick Children University of Toronto Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anath C.","family":"Lionel","sequence":"additional","affiliation":[{"name":"The Centre for Applied Genomics The Hospital for Sick Children University of Toronto Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan","family":"Blaser","sequence":"additional","affiliation":[{"name":"Division of Neuroradiology Department of Diagnostic Imaging The Hospital for Sick Children University of Toronto Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan","family":"Walker","sequence":"additional","affiliation":[{"name":"The Centre for Applied Genomics The Hospital for Sick Children University of Toronto Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8326-1999","authenticated-orcid":false,"given":"Stephen W.","family":"Scherer","sequence":"additional","affiliation":[{"name":"The Centre for Applied Genomics The Hospital for Sick Children University of Toronto Toronto Ontario Canada"},{"name":"McLaughlin Centre and Department of Molecular Genetics University of Toronto Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Riyana","family":"Babul\u2010Hirji","sequence":"additional","affiliation":[{"name":"Division of Clinical and Metabolic Genetics Department of Paediatrics The Hospital for Sick Children University of Toronto Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian R.","family":"Marshall","sequence":"additional","affiliation":[{"name":"The Centre for Applied Genomics The Hospital for Sick Children University of Toronto Toronto Ontario Canada"},{"name":"Genome Diagnostics Department of Paediatric Laboratory Medicine The Hospital for Sick Children University of Toronto Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dimitri J.","family":"Stavropoulos","sequence":"additional","affiliation":[{"name":"Genome Diagnostics Department of Paediatric Laboratory Medicine The Hospital for Sick Children University of Toronto Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Chitayat","sequence":"additional","affiliation":[{"name":"Division of Clinical and Metabolic Genetics Department of Paediatrics The Hospital for Sick Children University of Toronto Toronto Ontario Canada"},{"name":"The Prenatal Diagnosis and Medical Genetics Program Department of Obstetrics and Gynecology Mount Sinai Hospital University of Toronto Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,8,25]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.10.007"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awu082"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddt107"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/aws345"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2014.03.009"},{"key":"e_1_2_8_7_1","first-page":"e0174264","article-title":"A tubulin alpha 8 mouse knockout model indicates a likely role in spermatogenesis but not in brain development","volume":"12","author":"Diggle C. 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