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Four novel point mutations in the PMP22 gene with phenotypes of HNPP and Dejerine–Sottas neuropathy

✍ Scribed by Dana Brožková; Radim Mazanec; Zdeněk Rychlý; Jana Haberlová; Jiří Böhm; Jan Staněk; Pavlína Plevová; Jana Lisoňová; Jana Sabová; Iva Sakmaryová; Pavel Seeman

Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
350 KB
Volume
44
Category
Article
ISSN
0148-639X

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✦ Synopsis

Abstract

We report four novel point mutations in the PMP22 gene with two different phenotypes: mutation p.Ser79Thr arose de novo in a patient with the Dejerine–Sottas neuropathy (DSN) phenotype; and mutations c.78+5 G>A, c.320‐1 G>C, and p.Trp140Stop segregated with HNPP in 5 families.Our findings show that point mutations in PMP22 may be more likely in HNPP patients than in CMT1 patients after exclusion of CMT1A/HNPP. Muscle Nerve, 2011

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