An abnormal mRNA produced by a novel PMP22 splice site
mutation associated with HNPP
Emilia Bellone 1*, Piercesare Balestra 1, Giuseppe Ribizzi 2, Angelo Schenone 1, Gianna Zocchi 3, Emilio Di Maria 1, Franco Ajmar 1 and Paola Mandich 1
1 University of Genova, Italy
2 S. Martino Hospital, Italy
3 S:Martino Hospital, Italy
* To whom correspondence should be addressed. E-mail: ebellone{at}unige.it.
Accepted 1 September 2005
 | Abstract |
|---|
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.
Keywords:
HNPP, hereditary neuropathy with liability to pressure palsies, PMP22, splice site mutation
