An abnormal mRNA produced by a novel PMP22 splice site mutation associated with

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J Neurol Neurosurg Psychiatry. 2005 Sep 30

An abnormal mRNA produced by a novel PMP22 splice site mutation

associated with HNPP.

Bellone E, Balestra P, Ribizzi G, Schenone A, Zocchi G, Di E,

Ajmar F, Mandich P.

University of Genova, Italy.

Hereditary neuropathy with liability to pressure palsies (HNPP) is an

autosomal dominant, demyelinating neuropathy. Point mutations in the

PMP22 gene are rare cause of HNPP. We report a novel PMP22 splice

site mutation (c.179+1 G>C) in a HNPP family. By RT-PCR experiments

we demonstrated that this mutation causes the synthesis of an

abnormal mRNA in which a premature stop codon is likely to produce a

truncated, non functional, protein. Hereditary neuropathy with

liability to pressure palsies (HNPP) is an autosomal dominant,

demyelinating neuropathy. Point mutations in the PMP22 gene are rare

cause of HNPP. We report a novel PMP22 splice site mutation (c.179+1

G>C) in a HNPP family. By RT-PCR experiments we demonstrated that

this mutation causes the synthesis of an abnormal mRNA in which a

premature stop codon is likely to produce a truncated, non

functional, protein.