Details

Autor(en) / Beteiligte

• Le Guern, E
• Sturtz, F
• Gugenheim, M
• Gouider, R
• Bonnebouche, C
• Ravisé, N
• Gonnaud, P M
• Tardieu, S
• Bouche, P
• Chazot, G

Titel

Detection of deletion within 17p11.2 in 7 French families with hereditary neuropathy with liability to pressure palsies (HNPP)

Ist Teil von

• Cytogenetics and cell genetics, 1994, Vol.65 (4), p.261

Ort / Verlag

Switzerland

Erscheinungsjahr

1994

Quelle

MEDLINE

Beschreibungen/Notizen

• 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 RM11GT and the RFLP probe VAW409R3a. Only one allele could be detected in all affected individuals with the highly polymorphic RM11GT marker. Allele segregation at D17S122 showed no contribution from the affected parent to the affected child, demonstrating that an interstitial deletion within the 17p11.2 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 RM11GT microsatellite is an informative tool for the molecular diagnosis of HNPP.