X-linked dominant Charcot-Marie-Tooth neuropathy with 15 cases in a family genetic linkage study.
A large CMT family with 5 affected males and 10 affected females of 37 members in four generations was investigated by recombinant DNA studies. The proband patient in his original description of the pedigree indicated male-to- male transmission in one of his relatives, suggesting autosomal dominant inheritance. The genetic linkage study between the CMT locus and the loci of six markers mapped on chromosome 1 (FY, APCS, AT3, REN, APOA2, and GBA) gave negative results. These findings prompted further pedigree investigation which proved that male-to-male transmission was not present. A genetic linkage study with DXYS1, which is a DNA marker mapped on the long arm of the chromosome X, revealed tight linkage with z = 3.15 at theta = 0.10.
Ionasescu
V V
VV
Department of Pediatrics, University of Iowa Hospitals, Iowa City 52242.
Burns
T L
TL
Searby
C
C
Ionasescu
R
R
D000328:Adult; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D004247:DNA / Q000032:analysis; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers / Q000032:analysis; D006801:Humans; D008297:Male; D009134:Muscular Atrophy, Spinal / Q000235:genetics*; D010375:Pedigree
D005819:Genetic Markers; D004247:DNA