+ Site Statistics
+ Search Articles
+ PDF Full Text Service
How our service works
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ Translate
+ Recently Requested

Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies: a SacI polymorphism in the proximal CMT1A-REP elements may lead to genetic misdiagnosis



Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies: a SacI polymorphism in the proximal CMT1A-REP elements may lead to genetic misdiagnosis



Neurogenetics 2(1): 43-46



A male patient with clinical signs and symptoms of a demyelinating neuropathy was shown to have a duplication of the 1.5-Mb region on chromosome 17p11.2 by means of two-color fluorescence in situ hybridization (FISH). This duplication is typical for the vast majority of Charcot-Marie-Tooth type 1A (CMT1A) cases. Analysis of DNA extracted from peripheral blood used to detect an EcoRI/SacI 3. 2-kb junction fragment with probe pLR7.8 confirmed the CMT1A duplication, but also revealed a 7.8-kb fragment usually observed in patients with a hereditary neuropathy with liability to pressure palsies (HNPP). Both fragments observed in one patient canot result from one unequal crossover. In EcoRI/SacI Southern hybridization experiments with probe pLR7.8 DNA of his healthy parents also revealed a 7.8-kB restriction fragment. A subsequent two-color FISH analysis, however, indicated a normal status for interphase nuclei of the parents. Hence we hypothesize that the 7.8-kb fragment observed in our patient and his parents is not the product of unequal crossover during meiosis but due to a polymorphism of the SacI site in a proximal CMT1A-REP element.

Please choose payment method:






(PDF emailed within 1 workday: $29.90)

Accession: 045495733

Download citation: RISBibTeXText

PMID: 9933299


Related references

Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies Reliable detection of the CMT1A duplication and HNPP deletion using 8 microsatellite markers in 2 multiplex PCRs. International Journal of Molecular Medicine 6(4): 421-426, 2000

Rapid genetic screening of Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies patients. Neural Regeneration Research 7(32): 2522-2527, 2012

Molecular diagnosis of Charcot-Marie-Tooth 1A disease and hereditary neuropathy with liability to pressure palsies by quantifying CMT1A-REP sequences: consequences of recombinations at variant sites on chromosomes 17p11.2-12. Clinical Chemistry 42(7): 1021-1025, 1996

Molecular genetic diagnosis of Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies. Tidsskrift for den Norske Laegeforening 122(4): 382-385, 2002

Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies An Israeli study. American Journal of Human Genetics 57(4 Suppl. ): A247, 1995

Recombination hot spot in a 3.2-kb region of the Charcot-Marie-Tooth type 1A repeat sequences: new tools for molecular diagnosis of hereditary neuropathy with liability to pressure palsies and of Charcot-Marie-Tooth type 1A. French CMT Collaborative Research Group. American Journal of Human Genetics 58(6): 1223-1230, 1996

PCR-based strategy for the diagnosis of hereditary neuropathy with liability to pressure palsies and Charcot-Marie-Tooth disease type 1A. Neurology 50(3): 760-763, 1998

PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies. Orphanet Journal of Rare Diseases 9: 38, 2014

Progress in molecular diagnosis of Charcot-Marie-Tooth-disease type 1 and hereditary neuropathy with liability to pressure palsies by fluorescence in situ hybridization - detection of potential genetic mosaicism. American Journal of Human Genetics 55(3 Suppl. ): A211, 1994

Hereditary neuropathy with liability to pressure palsies with a partial deletion of the region often duplicated in Charcot-Marie-Tooth disease, type 1A. Journal of Neurology Neurosurgery and Psychiatry 61(5): 535-536, 1996

CMT1A-REPs based PCR strategies to identify duplications/deletions in Charcot-Marie-Tooth type 1A and Hereditary Neuropathies with liability to Pressure Palsies. American Journal of Human Genetics 65(4): A284, 1999

Recombination hot spot in a 3.2-kb region of the Charcot-Marie-Tooth type 1A repeat sequences: new tools for molecular diagnosis of hereditary neuropathy with liability to pressure palsies and of Charot-Marie-Tooth type 1A. American Journal of Human Genetics 58: 23-30, 1996

Assessment of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies A European collaborative study. American Journal of Human Genetics 57(4 Suppl. ): A222, 1995

Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study. European Journal of Human Genetics 4(1): 25-33, 1996

Gene dosage effects in hereditary peripheral neuropathy. Expression of peripheral myelin protein 22 in Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies nerve biopsies. Neurology 49(6): 1635-1640, 1997