A de novo duplication in 17p11.2 and a novel mutation in the Po gene in two Déjérine-Sottas syndrome patients

Human Mutation
K SilanderM L Savontaus

Abstract

Déjérine-Sottas syndrome (DSS), or hereditary motor and sensory neuropathy (HMSN) type III, is a severe hypertrophic demyelinating neuropathy with infantile onset. The clinical symptoms are similar to those found in Charcot-Marie-Tooth disease type 1 (CMT1) or HMSN type I patients, but they are more severe. DSS is genetically heterogeneous. Dominant mutations in two major peripheral myelin protein genes, PMP22 and Po, are associated with a DSS phenotype. Mutations in the same genes are also responsible for the CMT1 phenotype. A 1.5-Mb duplication in 17p11.2 is the major mutation found in familial and sporadic CMT1 patients. We studied two genetically sporadic DSS patients. The presence of a de novo duplication in one patient was revealed by Southern blot analysis, using polymorphic markers located in the duplicated area. The 17p11.2 allele segregation in this patient and in her parents suggests that the duplication is of maternal origin. In the other patient, single-strand conformation polymorphism (SSCP) analysis of the 6 exons of the Po gene revealed two additional bands in exon 3. Sequencing of this exon identified a novel dominant mutation replacing a sequence of 8 bp by a mutated sequence of 5 bp. The mutation apparently l...Continue Reading

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Citations

Feb 6, 1998·Human Mutation·E Sorour, M Upadhyaya
Nov 26, 2002·Trends in Genetics : TIG·Yosuke Tanaka, Nobutaka Hirokawa
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Oct 29, 2002·Muscle & Nerve·Violaine Plante-Bordeneuve, Gérard Said

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