Somatic mosaicism and variable penetrance in doublecortin-associated migration disorders

Publication

Somatic mosaicism and variable penetrance in doublecortin-associated migration disorders

Journal Paper/Review - Jan 28, 2003

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

Units

Neurologie

PubMed

12552055

Citation

Aigner L, Flügel D, Apheshiotis N, Holthausen H, Woerle H, Otte J, Spranger S, Eckel U, Martin P, Morris-Rosendahl D, Wolff G, Ploetz S, Couillard-Despres S, Uyanik G, Winkler J. Somatic mosaicism and variable penetrance in doublecortin-associated migration disorders. Neurology 2003; 60:329-32.

Type

Journal Paper/Review (English)

Journal

Neurology 2003; 60

Publication Date

Jan 28, 2003

Issn Electronic

1526-632X

Pages

329-32

Brief description/objective

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.