Molecular genetic analysis of the 17p11.2 region in patients with hereditary neuropathy with liability to pressure palsies (HNPP) |
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| Authors: | Vincent Timmerman Ann Löfgren Eric Le Guern Ping Liang Peter De Jonghe Jean-Jacques Martin Damienne Verhalle Wim Robberecht Riadh Gouider Alexis Brice Christine Van Broeckhoven |
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| Institution: | (1) Department of Biochemistry, Laboratory of Neurogenetics, Born Bunge Foundation, University of Antwerp (UIA), Universiteitsplein 1, B-2610 Antwerpen, Belgium;(2) Fédération de Neurologie, INSERM U 289, Hôpital de la Salpêtrière, Paris, France;(3) Department of Medicine, Laboratory of Neuropathology, Born Bunge Foundation, University of Antwerp (UIA), Antwerpen, Belgium;(4) Division of Neurology, Academic Hospital Antwerp (UZA), Antwerpen, Belgium;(5) Division of Neurology, University Hospital Gasthuisberg, Leuven, Belgium |
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| Abstract: | Hereditary neuropathy with liability to pressure palsies (HNPP) is in most cases associated with an interstitial deletion of the same 1.5-Mb region at 17p11.2 that is duplicated in Charcot-Marie-Tooth type 1A (CMT1A) patients. Unequal crossing-over following misalignment at flanking repeat sequences (CMT1A-REP), either leads to tandem duplication in CMT1A patients or deletion in HNPP patients. With the use of polymorphic DNA markers located within the CMT1A/HNPP duplication/deletion region we detected the HNPP deletion in 16 unrelated HNPP patients, 11 of Belgian and 5 of French origin. In all cases, the 1.5-Mb size of the HNPP deletion was confirmed by EcoRI dosage analysis using a CMT1A-REP probe. In the 16 HNPP patients, the same 370/320-kb EagI deletion-junction fragments were detected with pulsed field gel electrophoresis (PFGE), while in CMT1A patients, a 150-kb EagI duplication-junction fragment was seen. Thus, PFGE analysis of EagI-digested DNA with a CMT1A-REP probe allows direct detection of the HNPP deletion or the CMT1A duplication for DNA diagnostic purposes. |
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