A novel frameshift mutation in PMP22 accounts for hereditary neuropathy with liability to pressure palsies.
Peripheral myelin protein PMP22 deficiency is associated with hereditary neuropathy with liability to pressure palsies (HNPP). Most HNPP cases are caused by a 1.5-megabase deletion in chromosome 17p11.2-12, a region that contains the PMP22 gene, whereas point mutations leading to HNPP are extremely rare. We have identified a family with clinical and electrophysiologic features of HNPP,in which all affected members are heterozygous carriers of a single base insertion in codon 94. This mutation is predicted to alter the reading frame and to result in a delayed termination signal. We conclude that the functional consequences of the frameshift are equivalent to those of the PMP22 deletion allele.
Young
P
P
Klinik und Poliklinik für Neurologie, Westfähische Wilhelms-Universität, Münster, Germany.
Wiebusch
H
H
Stögbauer
F
F
Ringelstein
B
B
Assmann
G
G
Funke
H
H
D000328:Adult; D000595:Amino Acid Sequence; D002648:Child; D004487:Edema / Q000473:pathology; D005260:Female; D016368:Frameshift Mutation; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009185:Myelin Proteins / Q000235:genetics*; D009186:Myelin Sheath; D010243:Paralysis / Q000235:genetics*; D010523:Peripheral Nervous System Diseases / Q000235:genetics*; D011312:Pressure; D012008:Recurrence
D009185:Myelin Proteins; C073687:PMP22 protein, human