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Somatic mosaicism and variable penetrance in doublecortin-associated migration disorders

L Aigner, G Uyanik, S Couillard-Despres, S Ploetz, G Wolff, D Morris-Rosendahl, P Martin, U Eckel, S Spranger, J Otte, H Woerle, H Holthausen, N Apheshiotis, Dominique Flügel & J Winkler

abstract X-linked isolated lissencephaly sequence (XLIS) and subcortical band heterotopia (SBH) are allelic disorders caused by mutations in the doublecortin (DCX) gene. This genetic analysis of seven families revealed four novel mutations in the DCX gene. The authors detected a high rate of somatic mosaicism in male and female patients with variable penetrance of bilateral SBH including nonpenetrance in a heterozygous woman. In addition, the authors implemented prenatal diagnosis in a family with SBH/XLIS.
   
citation Aigner L, Uyanik G, Couillard-Despres S, Ploetz S, Wolff G, Morris-Rosendahl D, Martin P, Eckel U, Spranger S, Otte J, Woerle H, Holthausen H, Apheshiotis N, Flügel D, Winkler J. Somatic mosaicism and variable penetrance in doublecortin-associated migration disorders. Neurology 2003; 60:329-32.
   
type journal paper/review (English)
date of publishing 28-1-2003
journal title Neurology (60/2)
ISSN electronic 1526-632X
pages 329-32
PubMed 12552055