Morris-Rosendahl, Deborah J. and Najm, J. and Lachmeijer, A. M. A. and Sztriha, L. and Martins, M. and Kuechler, A. and Haug, V. and Zeschnigk, C. and Martin, P. and Santos, M. and Vasconcelos, C. and Omran, H. and Kraus, U. and Van der Knaap, M. S. and Schuierer, G. and Kutsche, K. and Uyanik, G. (2008) Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly. CLINICAL GENETICS, 74 (5). pp. 425-433. ISSN 0009-9163,
Full text not available from this repository. (Request a copy)Abstract
Mutations in the alpha-1a Tubulin (TUBA1A) gene have recently been found to cause cortical malformations resemblant of classical lissencephaly but with a specific combination of features. To date, TUBA1A mutations have been described in five patients and three foetuses. Our aims were to establish how common TUBA1A mutations are in patients with lissencephaly and to contribute to defining the phenotype associated with TUBA1A mutation. We performed mutation analysis in the TUBA1A gene in 46 patients with classical lissencephaly. In 44 of the patients, mutations in the LIS1 and/or DCX genes had previously been excluded; in 2 patients, mutation analysis was only performed in TUBA1A 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 TUBA1A gene in patients with classical lissencephaly to be approximately 4%, and although not as common as mutations in the LIS1 or DCX genes, mutation analysis in TUBA1A should be included in the molecular genetic diagnosis of classical lissencephaly, particularly in patients with the combination of features highlighted in this paper.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | SUBCORTICAL BAND HETEROTOPIA; NEURONAL MIGRATION; MILLER-DIEKER; CEREBELLAR HYPOPLASIA; CORTICAL DEVELOPMENT; MISSENSE MUTATIONS; DOUBLECORTIN GENE; LIS1; MALFORMATIONS; PACHYGYRIA; alpha-1a Tubulin; lissencephaly; mutation analysis; neuronal migration; TUBA1A |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Neurologie |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 19 Oct 2020 08:44 |
| Last Modified: | 19 Oct 2020 08:44 |
| URI: | https://pred.uni-regensburg.de/id/eprint/30079 |
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