Compound CMT may determine unusual and milder phenotypes

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Neurogenetics. 2009 Aug 25.

Compound Charcot-Marie-Tooth disease may determine unusual and milder

phenotypes.

Gouvea SP, S Borghetti VH, Bueno KC, Genari AB, Lourenço CM, Sobreira C,

Barreira AA, Marques W Jr.

Department of Neurosciences and Behavioral Sciences, School of Medicine of

Ribeirão Preto, University of São o, São o, Brazil.

Compound forms of Charcot-Marie-Tooth (CMT) disease have been recently

associated with unusually severe neuropathies, an observation that prompted the

proposition that the additive effects of two mutations should be searched in

patients whose clinical severity falls outside the common CMT phenotypes. In

this report, we present a father and a daughter with a very mild and unusual

disease that segregates with two mutations in PMP22 gene, the 17p11.2-p12

duplication and a Ser72Leu point mutation. We propose that the deleterious

effects of each mutation are partially compensated by the functional effect of

the other.