Charcot-Marie-Tooth disease type 1A: the parental origin of a de novo 17p11.2-p12 duplication.
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.
Hertz
J M
JM
Institute of Human Genetics, University of Aarhus, Denmark.
Børglum
A D
AD
Brandt
C A
CA
Flint
T
T
Bisgaard
C
C
D000328:Adult; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D002869:Chromosome Aberrations; D002886:Chromosomes, Human, Pair 17; D004252:DNA Mutational Analysis; D005220:Fathers; D018392:Genomic Imprinting; D006801:Humans; D008297:Male; D010375:Pedigree; D012091:Repetitive Sequences, Nucleic Acid