Hereditary neuropathy with liability to pressure palsies with a small deletion interrupting the PMP22 gene.
Hereditary neuropathy with liability to pressure palsies is associated with a deficiency in the Peripheral Myelin Protein 22 (PMP22). Most hereditary neuropathy with liability to pressure palsies cases are caused by a deletion of a 1.5 Mb region on chromosome 17p11.2-12 encompassing the PMP22 gene. We describe a hereditary neuropathy with liability to pressure palsies family that lacks the common deletion, but carries a small deletion spanning the 3' region of the PMP22 gene, causing only a partial deletion of one copy of the gene.
van de Wetering
R A C
RA
Institute of Neurology, University Medical Centre Nijmegen, Nijmegen, The Netherlands
Gabreëls-Festen
A A W M
AA
Timmerman
V
V
Padberg
G M
GM
Gabreëls
F J M
FJ
Mariman
E C M
EC
D000328:Adult; D015139:Blotting, Southern; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics*; D006801:Humans; D008297:Male; D009185:Myelin Proteins / Q000235:genetics*; D010243:Paralysis / Q000235:genetics*; D011312:Pressure
D009185:Myelin Proteins; C073687:PMP22 protein, human