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Charcot‐Marie‐Tooth phenotype produced by a duplicated PMP22 gene as part of a 17P trisomy‐translocation to the X chromosome
Author(s) -
King PH,
Waldrop R.,
Lupski JR,
Shaffer LG
Publication year - 1998
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1998.tb03755.x
Subject(s) - chromosomal translocation , phenotype , trisomy , genetics , biology , gene , chromosome , gene deletion , gene duplication , microbiology and biotechnology , mutant
The Charcot‐Mane‐Tooth disease type 1A (CMTlA) phenotype is most often associated with a 1.5 megabase (mb), tandem duplication of chromosome 17 band p12 (17˜12). The prevailing hypothesis is that the demyelinating neuropathy results from a dosage effect of the peripheral myelin protein gene PMP22 which is included within this duplication. We present a patient with clinical and electrophysiological features ofCMTlA in whom an extra PMP22 gene resulted from a rare unbalanced translocation of 17p to the X chromosome. This finding further supports the hypothesis of gene dosage as the basis for CMTlA. More‐over, this case highlights the importance of fluorescence in siiu hybridization (FISH) as an alternative molecular technique in the diagnosis of CMTlA.