title: Compound Charcot-Marie-Tooth disease may determine unusual and milder phenotypes.
abstract: 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.
authors.affiliation: Department of Neurosciences and Behavioral Sciences, School of Medicine of Ribeirão Preto, University of São Paulo, São Paulo, Brazil.
authors.forename: Silmara P
authors.initials: SP
authors.lastname: Gouvea
authors.forename: Vinícius H
authors.initials: VH
authors.lastname: S Borghetti
authors.forename: Keity C
authors.initials: KC
authors.lastname: Bueno
authors.forename: Adriana B
authors.initials: AB
authors.lastname: Genari
authors.forename: Charles M
authors.initials: CM
authors.lastname: Lourenço
authors.forename: Claudia
authors.initials: C
authors.lastname: Sobreira
authors.forename: Amilton A
authors.initials: AA
authors.lastname: Barreira
authors.forename: Wilson
authors.initials: W
authors.lastname: Marques
mesh_terms: D000328:Adult; D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis* / Q000235:genetics*; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D008957:Models, Genetic; D009154:Mutation; D009185:Myelin Proteins / Q000235:genetics*; D010641:Phenotype; D017354:Point Mutation
chemical_list: D009185:Myelin Proteins; C073687:PMP22 protein, human
references.citation: Braz J Med Biol Res. 2003 Oct;36(10):1403-7
references.pmid: 14502374
references.citation: Arch Neurol. 2006 Jan;63(1):112-7
references.pmid: 16401743
references.citation: Brain. 1997 Mar;120 ( Pt 3):465-78
references.pmid: 9126058
references.citation: Neuromolecular Med. 2006;8(1-2):43-62
references.pmid: 16775366
references.citation: Genet Med. 2001 Sep-Oct;3(5):335-42
references.pmid: 11545686
references.citation: Ann Neurol. 2006 Feb;59(2):358-64
references.pmid: 16437560
references.citation: Ann Neurol. 1998 May;43(5):680-3
references.pmid: 9585367
references.citation: Am J Med Genet A. 2008 Sep 15;146A(18):2412-6
references.pmid: 18698610
references.citation: J Neurol. 1999 Jul;246(7):596-9
references.pmid: 10463363
references.citation: J Neurol. 2005 Aug;252(8):972-9
references.pmid: 15765265
references.citation: Neurogenetics. 2005 Sep;6(3):159-63
references.pmid: 15947997
references.citation: J Neurol Neurosurg Psychiatry. 1997 Apr;62(4):310-8
references.pmid: 9120441
references.citation: Neurology. 1995 Nov;45(11):2090-3
references.pmid: 7501164
references.citation: Acta Neurol Scand. 2004 Sep;110(3):196-9
references.pmid: 15285778
references.citation: Ann Neurol. 2005 Apr;57(4):589-91
references.pmid: 15786462