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 Volume 61, Number 2, July 22, 2003
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Neurology 2003;61:232-235
© 2003 American Academy of Neurology
Brief Communications

ARX mutations in X-linked lissencephaly with abnormal genitalia

G. Uyanik, MD, L. Aigner, PhD, P. Martin, MD, C. Groß, MSc, D. Neumann, MD, H. Marschner-Schäfer, MD, U. Hehr, MD and J. Winkler, MD

From the Department of Neurology (Drs. Uyanik, Aigner, and Winkler) and Volkswagen-Foundation Junior Group (Dr. Aigner), University of Regensburg; Center for Epilepsy Kork (Drs. Martin and Neumann), Kehl-Kork; Center of Gynecological Endocrinology (C. Groß and Dr. Hehr), Reproductive Medicine and Human Genetics, Regensburg; and Center for Prenatal Diagnosis (Dr. Marschner-Schäfer), Hamburg, Germany.

Address correspondence and reprint requests to Dr. Juergen Winkler, Professor of Neurology, Department of Neurology, University of Regensburg, Universitätsstr. 84, D-93053 Regensburg, Germany; e-mail: juergen.winkler{at}klinik.uni-regensburg.de

X-linked lissencephaly with abnormal genitalia (XLAG) is a distinct form of lissencephaly associated with absent corpus callosum. Recently, forms of syndromic and nonspecific X-linked mental retardation have been found to be associated with mutations in the Aristaless-related homeobox gene ARX. The authors assessed ARX as a candidate gene for XLAG in a genetic analysis of neuronal migration disorders and found two different point mutations in two XLAG pedigrees affecting the homeodomain of the protein, confirming that ARX is a causative gene for XLAG.




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