PMID- 7903071
OWN - NLM
STAT- MEDLINE
DCOM- 19940119
LR  - 20180214
IS  - 0301-0171 (Print)
IS  - 0301-0171 (Linking)
VI  - 65
IP  - 4
DP  - 1994
TI  - Detection of deletion within 17p11.2 in 7 French families with hereditary 
      neuropathy with liability to pressure palsies (HNPP).
PG  - 261-4
AB  - 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.
FAU - Le Guern, E
AU  - Le Guern E
AD  - INSERM U289 and Service de Neurologie et Neuropsychologie, Hopital de la 
      Salpetriere, Paris, France.
FAU - Sturtz, F
AU  - Sturtz F
FAU - Gugenheim, M
AU  - Gugenheim M
FAU - Gouider, R
AU  - Gouider R
FAU - Bonnebouche, C
AU  - Bonnebouche C
FAU - Ravise, N
AU  - Ravise N
FAU - Gonnaud, P M
AU  - Gonnaud PM
FAU - Tardieu, S
AU  - Tardieu S
FAU - Bouche, P
AU  - Bouche P
FAU - Chazot, G
AU  - Chazot G
AU  - et al.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Switzerland
TA  - Cytogenet Cell Genet
JT  - Cytogenetics and cell genetics
JID - 0367735
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - Alleles
MH  - Base Sequence
MH  - *Chromosome Deletion
MH  - *Chromosomes, Human, Pair 17
MH  - DNA
MH  - Female
MH  - France
MH  - Genotype
MH  - Humans
MH  - Male
MH  - Molecular Sequence Data
MH  - Pedigree
MH  - Peripheral Nervous System Diseases/*genetics/physiopathology
MH  - Phenotype
MH  - Polymorphism, Restriction Fragment Length
EDAT- 1994/01/01 00:00
MHDA- 1994/01/01 00:01
CRDT- 1994/01/01 00:00
PHST- 1994/01/01 00:00 [pubmed]
PHST- 1994/01/01 00:01 [medline]
PHST- 1994/01/01 00:00 [entrez]
AID - 10.1159/000133643 [doi]
PST - ppublish
SO  - Cytogenet Cell Genet. 1994;65(4):261-4. doi: 10.1159/000133643.