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Forschungsdatenbank PMU-SQQUID

Somatic mosaicism and variable penetrance in doublecortin-associated migration disorders.
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;
Neurology. 2003; 60(2): 329-332.
Originalarbeiten (Zeitschrift)

PMU-Autor/inn/en

Aigner Ludwig
Couillard-Després Sébastien

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.


Useful keywords (using NLM MeSH Indexing)

Adult

Brain Diseases/complications

Brain Diseases/diagnosis

Brain Diseases/genetics*

Cell Movement/genetics

Child

Choristoma/complications

Choristoma/diagnosis

Choristoma/genetics*

Chromosomes, Human, X/genetics

DNA Mutational Analysis

Exons

Female

Heterozygote

Humans

Infant

Magnetic Resonance Imaging

Male

Microtubule-Associated Proteins*

Mosaicism/diagnosis*

Mutation

Nervous System Malformations/complications

Nervous System Malformations/diagnosis

Nervous System Malformations/genetics*

Neuropeptides/genetics*

Pedigree

Penetrance*

Phenotype

Polymorphism, Single-Stranded Conformational

Sex Factors