Article
Copy number variation upstream of PMP22 in Charcot-Marie-Tooth disease.
European journal of human genetics : EJHG - 1 Apr 2010
Weterman Marian A J, van Ruissen Fred, de Wissel Marit, Bordewijk Lou, Samijn Johnny P A, van der Pol W Ludo, Meggouh Farid, Baas Frank
Abstract excerpt
In several individuals with a Charcot-Marie-Tooth (CMT) phenotype, we found a copy number variation (CNV) on chromosome 17p12 in the direct vicinity of the peripheral myelin protein 22 (PMP22) gene. The exact borders and size of this CNV were determined by Southern blot analysis, MLPA, vectorette PCR, and microarray hybridization analyses. All patients from six apparently unrelated families carried an identical...
Topics
- Adult
- Blotting, Southern
- Charcot-Marie-Tooth Disease
- Chromosome Segregation
- Comparative Genomic Hybridization
- Female
- Gene Dosage
- Gene Duplication
- Genetic Variation
- Haplotypes
- Humans
- Male
- Microtubule Proteins