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Mutations in the myelin protein zero gene associated with Charcot‐Marie‐Tooth disease type 1B
Author(s) -
Latour Philippe,
Blanquet Françoise,
Nelis Eva,
Bonnebouche Christine,
Chapon Fraņoise,
Diraison Philippe,
Ollag Elisabeth,
Dautigny André,
PhamDinh Danielle,
Chazot Guy,
Boucherat Michel,
Van Broeckhoven Christine,
Vandenberghe Antoon
Publication year - 1995
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.1380060110
Subject(s) - peripheral myelin protein 22 , biology , myelin , gene duplication , gene , genetics , mutation , chromosome , microbiology and biotechnology , chromosome 17 (human) , peripheral neuropathy , central nervous system , neuroscience , diabetes mellitus , endocrinology
Charcot‐Marie‐Tooth type 1 (CMT1) disease is an autosomal dominant neuropathy of the peripheral nerve. The majority of CMT 1 cases are due to a duplication of an 1.5‐Mb DNA fragment on chromosome 17pl1.2 (CMT la). Micromutations were found in the gene for peripheral myelin protein 22 (PMp22) located in the duplicated region of CMT la, and in the peripheral myelin protein zero (PO) located on chromosome lq21‐23 (CMT Ib). We have characterized two new mutations in the PO gene in two french families presenting CMT disease. Both mutations occur in the extracellular domain of the PO protein. One mutation is a de novo mutation and is from paternal origin. © 1995 Wiley‐Liss, Inc.