{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T11:10:35Z","timestamp":1789989035512,"version":"4.0.1"},"reference-count":34,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2008,9,25]],"date-time":"2008-09-25T00:00:00Z","timestamp":1222300800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2008,11]]},"abstract":"<jats:p>Mutations in the <jats:italic>\u03b1\u20101a Tubulin <\/jats:italic>(<jats:italic>TUBA1A<\/jats:italic>) gene have recently been found to cause cortical malformations resemblant of classical lissencephaly but with a specific combination of features. To date, <jats:italic>TUBA1A <\/jats:italic>mutations have been described in five patients and three foetuses. Our aims were to establish how common <jats:italic>TUBA1A <\/jats:italic>mutations are in patients with lissencephaly and to contribute to defining the phenotype associated with <jats:italic>TUBA1A <\/jats:italic>mutation. We performed mutation analysis in the <jats:italic>TUBA1A <\/jats:italic>gene in 46 patients with classical lissencephaly. In 44 of the patients, mutations in the <jats:italic>LIS1 <\/jats:italic>and\/or <jats:italic>DCX <\/jats:italic>genes had previously been excluded; in 2 patients, mutation analysis was only performed in <jats:italic>TUBA1A <\/jats:italic>based on magnetic resonance imaging (MRI) findings. We identified three new mutations and one recurrent mutation in five patients with variable patterns of lissencephaly on brain MRI. Four of the five patients had congenital microcephaly, and all had dysgenesis of the corpus callosum and cerebellar hypoplasia, and variable cortical malformations, including subtle subcortical band heterotopia and absence or hypoplasia of the anterior limb of the internal capsule. We estimate the frequency of mutation in <jats:italic>TUBA1A <\/jats:italic>gene in patients with classical lissencephaly to be approximately 4%, and although not as common as mutations in the <jats:italic>LIS1 <\/jats:italic>or <jats:italic>DCX <\/jats:italic>genes, mutation analysis in <jats:italic>TUBA1A <\/jats:italic>should be included in the molecular genetic diagnosis of classical lissencephaly, particularly in patients with the combination of features highlighted in this paper.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2008.01093.x","type":"journal-article","created":{"date-parts":[[2009,1,23]],"date-time":"2009-01-23T09:47:12Z","timestamp":1232704032000},"page":"425-433","source":"Crossref","is-referenced-by-count":92,"title":["Refining the phenotype of <i>\u03b1\u20101a Tubulin <\/i>(<i>TUBA1A<\/i>) mutation in patients with classical 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