A novel point mutation in PMP22 gene in an Italian family with hereditary neuropathy with liability to pressure palsies

2007 ◽  
Vol 263 (1-2) ◽  
pp. 194-197 ◽  
Author(s):  
Maria Muglia ◽  
Alessandra Patitucci ◽  
Romana Rizzi ◽  
Carmine Ungaro ◽  
Francesca Luisa Conforti ◽  
...  
Keyword(s):  
Point Mutation ◽  
Hereditary Neuropathy ◽  
Pmp22 Gene ◽  
Italian Family ◽  
Pressure Palsies

A New Point Mutation in the PMP22 Gene in a Family Suffering From Atypical HNPP

2020 ◽  
Vol 7 (4) ◽  
pp. 505-510
Author(s):  
T. Benquey ◽  
E. Fockens ◽  
L. Kouton ◽  
E. Delmont ◽  
N. Martini ◽  
...  
Keyword(s):  
Point Mutation ◽  
Lower Limb ◽  
Autosomal Dominant ◽  
Genetic Defect ◽  
Point Mutations ◽  
Acute Onset ◽  
Hereditary Neuropathy ◽  
Pmp22 Gene ◽  
Partial Deletion ◽  
Pressure Palsies

Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant inherited disorder commonly presenting with acute-onset, non-painful focal sensory and motor mono neuropathy. In 80% of cases, the genetic defect is a 1.5 Mb deletion on chromosome 17p11.2, including PMP22. Only few cases of partial deletion and point mutations in PMP22 are involved in HNPP. We investigated a 62-years-old man with lower limb plexopathy first considered as Garland’s syndrome. A month later, his 29 years old son also consulted for paresthesia on the peroneal nerve. Targeted sequencing of the PMP22 gene identified a c.370delT (p.Trp124Glyfs*31) in both affected patients. We report a new PMP22 point mutation associated with an atypical clinical phenotype of HNPP, a painful plexopathy of the lower limb worsenen by diabetes and a mere paresthesia, but a typical ENMG. This study illustrates the large spectrum of the disease, and emphasizes the importance of a complete ENMG and family history.

scholarly journals Hereditary neuropathy with liability to pressure palsy (HNPP): report of a family with a new point mutation in PMP22 gene

2017 ◽  
Vol 43 (1) ◽  
Author(s):  
Carlo Fusco ◽  
Carlotta Spagnoli ◽  
Grazia Gabriella Salerno ◽  
Elena Pavlidis ◽  
Daniele Frattini ◽  
...  
Keyword(s):  
Point Mutation ◽  
Hereditary Neuropathy ◽  
Pmp22 Gene ◽  
Pressure Palsy

scholarly journals Hereditary neuropathy with liability to pressure palsies in childhood: case series and update from the literature

2015 ◽  
Vol 42 (S1) ◽  
pp. S15-S15
Author(s):  
N Chrestian ◽  
C Campbell ◽  
C Poulin ◽  
H McMillan ◽  
J Vajsar
Keyword(s):  
Clinical Presentation ◽  
Case Reports ◽  
Conduction Block ◽  
Case Series ◽  
Hereditary Neuropathy ◽  
Pmp22 Gene ◽  
Gene Testing ◽  
Appropriate Care ◽  
Peroneal Palsy ◽  
Pressure Palsies

Introduction: HNPP presentation in childhood is rare and diverse and most of the published literature is based on case reports. Materials and Methods: we analyzed the data of 11 children with deletion in PMP22 gene, reviewed the published reports of HNPP in children and compared our data with the reports from the literature review. Results: Peroneal palsy was the most common presentation (50%) followed by the brachial plexus palsy in 30% of cases. The trigger of the demyelinating event was identified only in 27%. 72% of our cohort developed only one acute episode of nerve palsy. Nerve conduction studies were always suggestive of the diagnosis demonstrating 60% of cases a polyneuropathy, 50% of cases conduction block but 100% of bilateral or unilateral electrophysiologic entrapment of the median nerve at the carpal tunnel. Conclusion: The clinical presentation of HNPP in childhood is heterogeneous and EMG findings are abnormal. Any unexplained mononeuropathy or multifocal neuropathy should lead to PMP22 gene testing to look for the deletion. Early diagnosis is important for the genetic counselling but also for the appropriate care of these patients.

A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies

1994 ◽  
Vol 6 (3) ◽  
pp. 263-266 ◽  
Author(s):  
Garth A. Nicholson ◽  
Linda J. Valentijn ◽  
Annia K. Cherryson ◽  
Marina L. Kennerson ◽  
Tara L. Bragg ◽  
...  
Keyword(s):  
Hereditary Neuropathy ◽  
Pmp22 Gene ◽  
Frame Shift ◽  
Frame Shift Mutation ◽  
Pressure Palsies

scholarly journals A newly identified Thr99fsX110 mutation in the PMP22 gene associated with an atypical phenotype of the hereditary neuropathy with liability to pressure palsies.

2009 ◽  
Vol 56 (4) ◽  
Author(s):  
Izabela Moszyńska ◽  
Dagmara Kabzińska ◽  
Elena Sinkiewicz-Darol ◽  
Andrzej Kochański
Keyword(s):  
Point Mutations ◽  
Hereditary Neuropathy ◽  
Pmp22 Gene ◽  
Charcot Marie Tooth ◽  
Tooth Type ◽  
Pressure Palsies ◽  
Atypical Phenotype

Hereditary neuropathy with liability to pressure palsies (HNPP) is manifested by a spectrum of phenotypes, from the classical HNPP course associated with intermittent nerve palsies to a neuropathy resembling Charcot-Marie-Tooth type 1 (CMT1) disease. The majority of HNPP cases are associated with submicroscopical deletions in the 17p11.2-p12 region containing the PMP22 gene, while PMP22 point mutations are rare, representing about 15% of HNPP cases. In this study, we present a patient manifesting with atypical HNPP phenotype associated with a new Thr99fsX110 mutation in the PMP22 gene. We conclude that all patients who fulfill the electrophysiological criteria of HNPP, even if they lack the typical HNPP phenotype, should be tested for point mutations in the PMP22 gene.

A family with a novel frameshift mutation in the PMP22 gene (c.433_434insC) causing a phenotype of hereditary neuropathy with liability to pressure palsies

2005 ◽  
Vol 15 (7) ◽  
pp. 493-497 ◽  
Author(s):  
H. Zéphir ◽  
T. Stojkovic ◽  
P. Latour ◽  
J.F. Hurtevent ◽  
F. Blankaert ◽  
...  
Keyword(s):  
Frameshift Mutation ◽  
Hereditary Neuropathy ◽  
Pmp22 Gene ◽  
Pressure Palsies
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