Somatic mosaicism and variable penetrance in doublecortin-associated migration disorders

被引：28

作者：

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

Fluegel, D

Winkler, J

机构：

[1] Univ Regensburg, Dept Neurol, D-93053 Regensburg, Germany

[2] Univ Regensburg, Volkswagen Fdn Jr Grp, D-93053 Regensburg, Germany

[3] Univ Freiburg, Inst Anthropol & Human Genet, D-7800 Freiburg, Germany

[4] Epilepsy Ctr Bethel, Bielefeld, Germany

[5] Olga Hosp, Pediat Ctr, Stuttgart, Germany

[6] Clin Human Genet, Braunschweig, Germany

来源：

NEUROLOGY | 2003年 / 60卷 / 02期

关键词：

D O I：

10.1212/01.WNL.0000042091.90361.D2

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：329 / 332

页数：4

共 11 条

[1] Isolated lissencephaly sequence and double-cortex syndrome in a German family with a novel doublecortin mutation [J].