{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,3]],"date-time":"2026-09-03T04:56:30Z","timestamp":1788411390852,"version":"build-2803163510"},"reference-count":20,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2020,10,5]],"date-time":"2020-10-05T00:00:00Z","timestamp":1601856000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2020,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A range of clinical findings have been associated with heterozygous mutations in the <jats:italic>Beta Tubulin<\/jats:italic> (<jats:italic>TUBB<\/jats:italic>) gene, including microcephaly, structural brain abnormalities, intellectual disability, and skin creases. We report a 5\u2010year\u2010old male who presented for evaluation of cleft palate, cardiac defects, growth retardation, hemivertebrae causing scoliosis, and preauricular skin tags. Previous clinical exome sequencing of this patient was nondiagnostic, but reanalysis in the research setting identified a <jats:italic>de novo<\/jats:italic> missense c. 925C&gt;G p.(Arg309Gly) mutation in <jats:italic>TUBB<\/jats:italic>. This mutation was not found in population allele frequency databases, and was classified to be likely pathogenic. This patient shares some phenotypic characteristics with previous reported patients of <jats:italic>TUBB<\/jats:italic> mutations of the two <jats:italic>TUBB<\/jats:italic>\u2010related phenotypes: \u201cCortical dysplasia, complex, with other brain malformations 6\u201d [MIM 615771] and \u201cCircumferential Skin Creases Kunze type (CSC\u2010KT)\u201d [MIM 156610], but has no excess skin creases or structural brain anomalies. We also report previously undescribed features, including transposition of the great arteries and vertebral fusion, thus representing phenotype expansion of <jats:italic>TUBB<\/jats:italic>\u2010associated disorders.<\/jats:p>","DOI":"10.1002\/ajmg.a.61897","type":"journal-article","created":{"date-parts":[[2020,10,5]],"date-time":"2020-10-05T10:27:02Z","timestamp":1601893622000},"page":"3035-3039","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Clinical variability of <scp><i>TUBB<\/i><\/scp>\u2010associated disorders: Diagnosis through reanalysis"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2265-6727","authenticated-orcid":false,"given":"Dong","family":"Li","sequence":"first","affiliation":[{"name":"Center for Applied Genomics The Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kaitlyn M.","family":"Shen","sequence":"additional","affiliation":[{"name":"Center for Applied Genomics The Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elaine H.","family":"Zackai","sequence":"additional","affiliation":[{"name":"Division of Human Genetics The Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5748-3507","authenticated-orcid":false,"given":"Elizabeth J.","family":"Bhoj","sequence":"additional","affiliation":[{"name":"Center for Applied Genomics The Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"},{"name":"Division of Human Genetics The Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,10,5]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awu082"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2016.224"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.173"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.131516"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2012.11.017"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-94-007-7687-6_5"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbr.2017.01.029"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-019-0442-1"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0065-3233(01)59003-8"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2018.8"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13073-017-0412-6"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.10.014"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddq182"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2019.02.002"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.162"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddu238"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-019-0401-x"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-018-0044-2"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2014.09.027"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-018-0137-z"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61897","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.61897","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61897","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,4]],"date-time":"2023-09-04T07:04:31Z","timestamp":1693811071000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.61897"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,10,5]]},"references-count":20,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2020,12]]}},"alternative-id":["10.1002\/ajmg.a.61897"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.61897","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,10,5]]},"assertion":[{"value":"2020-07-26","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-09-14","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-10-05","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}