Hartmann, Hans and Uyanik, G. and Gross, C. and Hehr, U. and Lucke, T. and Arslan-Kirchner, M. and Antosch, B. and Das, A. M. and Winkler, J. (2004) Agenesis of the corpus callosum, abnormal genitalia and intractable epilepsy due to a novel familial mutation in the aristaless-related homeobox gene. NEUROPEDIATRICS, 35 (3). pp. 157-160. ISSN 0174-304X
Full text not available from this repository. (Request a copy)Abstract
Mutations in the Aristaless-related homeobox (ARX) gene are associated with a broad spectrum of disorders including X-linked lissencephaly with abnormal genitalia (XLAG) and absent corpus callosum. Here, we describe a family with two male infants suffering from agenesis of the corpus callosum (ACC), intractable epilepsy, and abnormal genitalia. The phenotype of both affected patients differed in severity of the cerebral malformation with one showing no obvious evidence for lissencephaly. Both infants lacked any psychomotor development and died at the age of 17 weeks and 18 months, respectively. Genetic analysis of the ARX gene revealed a novel frameshift mutation in exon 4 (nt1419_1420insAC) leading to a shortened protein lacking the aristaless domain. In summary, analysis of the ARX gene should not only be considered in male patients with typical features of XLAG but also in those presenting with early onset epilepsy, ACC, and abnormal genitalia without obvious neuroradiological features of lissencephaly.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | LINKED MENTAL-RETARDATION; AMBIGUOUS GENITALIA; ARX; abnormal genitalia; agenesis of the corpus callosum; XLAG; ARX gene; neuronal migration; epilepsy |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Neurologie |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 20 Jul 2021 05:14 |
| Last Modified: | 20 Jul 2021 05:14 |
| URI: | https://pred.uni-regensburg.de/id/eprint/37609 |
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