HNPP: A novel point mutation in PMP22 gene in an Italian family with hereditary

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J Neurol Sci. 2007 Dec 15;263(1-2):194-7.

A novel point mutation in PMP22 gene in an Italian family with

hereditary neuropathy with liability to pressure palsies.

Muglia M, Patitucci A, Rizzi R, Ungaro C, Conforti FL, e AL,

Magariello A, Mazzei R, Motti L, Sabadini R, Sprovieri T, Marcello N,

Quattrone A.

Institute of Neurological Sciences, National Research Council,

Mangone (Cosenza), Italy.

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

autosomal dominant inherited disorder characterized by recurrent

sensory or motor dysfunction. In 85% of HNPP cases the genetic defect

is a 1.4 Mb deletion on chromosome 17p11.2, encompassing the PMP22

gene. Point mutations in the PMP22 gene responsible for HNPP

phenotypes are rare.

We investigated a 17-years-old girl who led to our detecting a novel

mutation in PMP22 gene. The mutation was also detected in her father

and corresponded to a deletion of one tymidine at position 11 in

exon2 (c.11delT). This novel mutation creates a shift on the reading

frame starting at codon 4 and leads to the introduction of a

premature stop at codon 6.