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

• Autorzy: Moszynska I. , Kabzinska D. , Sinkiewicz-Darol E. , Kochanski A.
• Języki publikacji: EN

Abstrakty

EN

 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.

Słowa kluczowe

EN

Charcot-Marie-Tooth type 1 disease; hereditary neuropathy; phenotype; intermittent nerve palsy; pressure palsy; PMP22 gene mutation; hereditary neuropathy with liability to pressure palsy; patient

• Wydawca: -
• Czasopismo: Acta Biochimica Polonica
• Rocznik: 2009
• Tom: 56
• Numer: 4
• Opis fizyczny: p.627-630,fig.,ref.

Twórcy

autor

Moszynska I.

• Mossakowski Medical Research Centre Polish Academy of Sciences, A.Pawinskiego 5A, 02-106 Warsaw, Poland

autor

Kabzinska D.

autor

Sinkiewicz-Darol E.

autor

Kochanski A.

Bibliografia

• Aarskog NK, Vedeler CA (2000) Real-time quantitative polymerase chain reaction. A new method that detects both the peripheral myelin protein 22 duplication in Charcot-Marie-Tooth type 1A disease and the peripheral myelin protein 22 deletion in hereditary neuropathy with liability to pressure palsies. Hum Genet 107: 494-498. 
• Chance PF, Alderson MK, Leppig KA, Lensch MW, Matsunami N, Smith B, Swanson PD, Odelberg SJ, Disteche CM, Bird TD (1993) DNA deletion associated with hereditary neuropathy with liability to pressure palsies. Cell 72: 143-151.  
• Lenssen PPA, Gabreels-Festen AAWM, Valentijn LJ, Jongen PJ, van Beersum SE, van Engelen BG, van Wensen PJ, Bolhuis PA, Gabreëls FJ, Mariman EC (1998) Hereditary neuropathy with liability to pressure palsies. Phenotypic differences between patients with the common deletion and a PMP22 frame shift mutation. Brain 121: 1451-1458. 
• Mouton P, Tardieu S, Gouider R, Birouk N, Maisonobe T, Dubourg O, Brice A, LeGuern E, Bouche P (1999) Spectrum of clinical and electrophysiologic features in HNPP patients with the 17p11.2 deletion. Neurology 52: 1440-1446. 
• Nicholson GA, Valentijn LJ, Cherryson AK, Kennerson ML, Bragg TL, DeKroon RM, Ross DA, Pollard JD, McLeod JG, Bolhuis PA, Baas F (1994) A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies. Nat Genet 6: 263-266. 
• Stronach EA, Clark C, Bell Ch, Löfgren A, McKay NG, Timmerman V, Van Broeckhoven C, Haites N (1999) Novel PCR-based diagnostic tools for Charcot-Marie-Tooth type 1A and hereditary neuropathy with liability to pressure palsies. J Peripher Nerv Syst 4: 117-122