• PMID: 12874405
• Gene Name: ARX
• Condition: Abnormal genitalia
• Association: Associated
• Sex: Male
• Infertility type: Male infertility

ARX mutations in X-linked lissencephaly with abnormal genitalia

Uyanik G, Aigner L, Martin P, Gross C, Neumann D, Marschner-Schäfer H, Hehr U, Winkler J.

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. FAU - Uyanik, G AU - Uyanik G AD - Department of Neurology, University of Regensburg, Germany. FAU - Aigner, L AU - Aigner L FAU - Martin, P AU - Martin P FAU - Gross, C AU - Gross C FAU - Neumann, D AU - Neumann D FAU - Marschner-Schäfer, H AU - Marschner-Schäfer H FAU - Hehr, U AU - Hehr U