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Four novel point mutations in the PMP22 gene with phenotypes of HNPP and Dejerine–Sottas neuropathy
Author(s) -
Brožková Dana,
Mazanec Radim,
Rychlý Zdeněk,
Haberlová Jana,
Böhm Jiří,
Staněk Jan,
Plevová Pavlína,
Lisoňová Jana,
Sabová Jana,
Sakmaryová Iva,
Seeman Pavel
Publication year - 2011
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.22189
Subject(s) - point mutation , phenotype , mutation , genetics , gene , gene duplication , biology , medicine
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