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Charcot-Marie-Tooth disease type 1A: the parental origin of a de novo 17p11.2-p12 duplication
J M Hertz1, A D Børglum, C A Brandt
1Institute of Human Genetics, University of Aarhus, Denmark.
Clinical Genetics
|October 1, 1994
Abstract:
Charcot-Marie-Tooth disease type 1A (CMT1A) is an autosomal dominant peripheral neuropathy associated with a DNA duplication on chromosome 17p11.2-p12 in the majority of cases. Most of the sporadic cases are due to a de novo duplication. We have screened for this duplication in 11 Danish patients with CMT type 1, using four different techniques, and identified a de novo duplication in a sporadic case. Analysis of the fully informative pVAW409R3a alleles in this family showed the duplication to be of paternal origin.