{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,30]],"date-time":"2025-10-30T17:15:23Z","timestamp":1761844523448},"reference-count":26,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2015,6,24]],"date-time":"2015-06-24T00:00:00Z","timestamp":1435104000000},"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":[[2015,11]]},"abstract":"<jats:sec><jats:label \/><jats:p>Nervous system development is highly dependent on the function of microtubules, which are assembled from tubulin heterodimers containing several \u03b1\u2010 and \u03b2\u2010tubulin isotypes encoded by separate genes. A spectrum of neurological disorders with malformations of the central nervous system has recently been associated with missense mutations in this group of genes. Here, we report two patients, monozygotic twins, carrying a de novo 0.32\u2009Mb deletion of chromosome 16q24.3 including the <jats:italic>TUBB3<\/jats:italic> gene. The patients presented with global developmental delay, mild facial dysmorphism, secondary microcephaly, and mild spastic diplegia. Cerebral magnetic resonance imaging of the patients did not reveal cortical malformations, malformations of the corticospinal tracts, basal ganglia, corpus callosum, or optic nerves. This observation is in contrast to the group of neurological disorders that are associated with heterozygous missense mutations in genes encoding different neuronal \u03b1\u2010 and \u03b2\u2010tubulin isotypes, termed tubulinopathies. On the background of current knowledge regarding the function and genotype\u2013phenotype correlations of mutations in the neuronal tubulin isotypes, the clinical and diagnostic findings in these patients are discussed. To our knowledge, this is the first report of patients with a de novo deletion of the <jats:italic>TUBB3<\/jats:italic> gene. The lack of cortical or other cerebral malformations supports the current hypothesis that TUBB3\u2010related tubulinopathies are caused by altered protein function. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37227","type":"journal-article","created":{"date-parts":[[2015,6,24]],"date-time":"2015-06-24T12:51:46Z","timestamp":1435150306000},"page":"2731-2736","source":"Crossref","is-referenced-by-count":8,"title":["Monozygotic twins with a de novo 0.32\u2009Mb 16q24.3 deletion, including <i>TUBB<\/i>3 presenting with developmental delay and mild facial dysmorphism but without overt brain malformation"],"prefix":"10.1002","volume":"167","author":[{"given":"Sabine","family":"Gr\u00f8nborg","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics Copenhagen University Hospital Rigshospitalet Copenhagen 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