Frequency of duplication at 17p11.2 in families of northeast Italy with Charcot-Marie-Tooth disease type 1.
Charcot-Marie-Tooth disease type 1 (CMT 1) is the most common form of the hereditary motor sensory neuropathies (HMSN) with a prevalence in the Italian population of 9.4/100,000 inhabitants. CMT 1 is a genetically heterogeneous disorder. Forty CMT 1 families (35 with recurrence of cases and 5 sporadic cases) living in northeastern Italy were analyzed with the probe pVAW409R3 to reveal the presence of 17p11.2 duplication. The duplication frequency that resulted was about 82% and not significantly different in familial and in sporadic cases (p = 0.801). This kind of molecular analysis can be very useful for the differential diagnosis of CMT 1 and for the early diagnosis in the absence of a clear clinical manifestation.
Mostacciuolo
M L
ML
Department of Biology, University of Padua, Italy.
Schiavon
F
F
Angelini
C
C
Miccoli
B
B
Piccolo
F
F
Danieli
G A
GA
D000483:Alleles; D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D002886:Chromosomes, Human, Pair 17; D015342:DNA Probes; D005190:Family; D006801:Humans; D007558:Italy / Q000453:epidemiology; D005810:Multigene Family; D015995:Prevalence
D015342:DNA Probes