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Mutation Testing in Charcot‐Marie‐Tooth Neuropathy
Author(s) -
NICHOLSON GARTH A.
Publication year - 1999
Publication title -
annals of the new york academy of sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.712
H-Index - 248
eISSN - 1749-6632
pISSN - 0077-8923
DOI - 10.1111/j.1749-6632.1999.tb08599.x
Subject(s) - peripheral myelin protein 22 , point mutation , mutation , phenotype , gene duplication , myelin , genetics , peripheral neuropathy , medicine , biology , gene , endocrinology , central nervous system , diabetes mellitus
In order to determine the optimal approach for mutation testing in the form of Charcot‐Marie‐Tooth (CMT) neuropathy, consecutive patients with a CMT phenotype, available family history information on at least first‐degree relatives, and median motor conduction velocities of less than 50 m/sec were tested for the CMT1A duplication and for connexin32 , peripheral myelin protein 22 ( PMP22 ) and myelin protein zero ( P 0 ) point mutations. A cutoff value for median motor conduction velocity of less than 50 m/sec was adopted to include all CMTX families. All of the connexin32 mutations, except for one sporadic case, were found by first selecting families with no male‐to‐male inheritance of CMT and neurophysiological indicators of CMTX. All PMP22 and P 0 mutations were found by selecting Dejerine‐Sottas cases or dominantly inherited CMT1 with a very severe phenotype. It is concluded that “blind” testing of CMT1 families for connexin32 , P 0 , and PMP22 mutations is of limited value.