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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Detection of deletion within 17p11.2 in 7 French families with hereditary neuropathy with liability to pressure palsies (HNPP)
Cytogenetics and Cell Genetics, Volume 65, No. 4, Year 1994
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Description
Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant peripheral neuropathy which is characterized by recurrent episodes of truncular palsies. We have analyzed the D17S122 locus in 7 French families, including 18 affected members, with microsatellite RMI1GT and the RFLP probe VAW409R3a. Only one allele could be detected in all affected individuals with the highly polymorphic RM11GT marker. Allele segregation at Dl 7S122 showed no contribution from the affected parent to the affected child, demonstrating that an interstitial deletion within the 17pl 1.2 region is associated with HNPP in the 7 families studied. This same region is duplicated, however, in another inherited neuropathy. Charcot-Marie-Tooth 1A disease. This would be the first example of two dominantly inherited diseases caused by a ‘in mirror image’ deletion/duplication mechanism where a gene dosage effect would be sufficient to produce two different phenotypes characterized by abnormal myelination of the peripheral nerves. The RM 11GT microsatellite is an informative tool for the molecular diagnosis of HNPP. © 1994 S. Karger AG, Basel.
Authors & Co-Authors
Le Guern, Éric
France, Paris
Inserm
Sturtz, Franck G.
France, Lyon
Hopital de L'antiquaille
Gugenheim, Michel
France, Paris
Hôpital Universitaire Pitié Salpêtrière
Gouider, R.
France, Paris
Hôpital Universitaire Pitié Salpêtrière
Ravisé, Nicole
France, Paris
Inserm
Tardieu, Sandrine
France, Paris
Inserm
Chazot, Guy
France, Lyon
Hopital de L'antiquaille
Agid, Yves A.
France, Paris
Inserm
Vandenberghe, Antoon J.C.
France, Lyon
Hopital de L'antiquaille
France, Villeurbanne
Université Claude Bernard Lyon 1
Brice, Alexis
France, Paris
Inserm
Statistics
Citations: 53
Authors: 10
Affiliations: 4
Identifiers
Doi:
10.1159/000133643
ISSN:
03010171
Research Areas
Genetics And Genomics
Maternal And Child Health