Somatic mosaicism and variable penetrance in doublecortin-associated migration disorders

Publikation

Somatic mosaicism and variable penetrance in doublecortin-associated migration disorders

Wissenschaftlicher Artikel/Review - 28.01.2003

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

Bereiche

Neurologie

PubMed

12552055

Zitation

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.

Art

Wissenschaftlicher Artikel/Review (Englisch)

Zeitschrift

Neurology 2003; 60

Veröffentlichungsdatum

28.01.2003

eISSN (Online)

1526-632X

Seiten

329-32

Kurzbeschreibung/Zielsetzung

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.