Premium
A new single‐nucleotide deletion of PMP22 in an HNPP family without recurrent palsies
Author(s) -
Luigetti Marco,
Conte Amelia,
Madia Francesca,
Mereu Maria Lucia,
Zollino Marcella,
Marangi Giuseppe,
Pomponi Maria Grazia,
Liberatore Giuseppe,
Tonali Pietro Altilio,
Sabatelli Mario
Publication year - 2008
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.21083
Subject(s) - nerve biopsy , peripheral myelin protein 22 , medicine , mutation , pathology , palsy , atrophy , polyneuropathy , peripheral neuropathy , connexin 32 , myelin , anatomy , genetics , gene , biology , endocrinology , central nervous system , alternative medicine , diabetes mellitus , intracellular , connexin , gap junction
In this study we describe four patients from the same kindred who were affected by an autosomal‐dominantly inherited peripheral neuropathy. They presented an unusual combination of clinical, electrophysiological, and pathological findings in association with a new mutation of the PMP22 gene. Clinically, three patients had carpal tunnel syndrome symptoms and one patient had late‐onset peroneal atrophy. Motor and sensory nerve conduction velocities were reduced without focal slowing at entrapment sites. Nerve biopsy disclosed diffuse hypomyelination with focal thickening of the myelin sheath in some fibers. Sequence analysis of the PMP22 gene showed a single‐nucleotide deletion (227delG) in the affected patients. This mutation, which has not been reported previously, leads to an open reading frame shift and probably to a truncated and unstable PMP22 protein. We conclude that this novel 227delG mutation of PMP22 gives a mild form of hereditary neuropathy with liability to pressure palsy with atypical clinical and electrophysiological findings. Muscle Nerve, 2008