PMID- 8112739
OWN - NLM
STAT- MEDLINE
DCOM- 19940329
LR  - 20190722
IS  - 0340-6717 (Print)
IS  - 0340-6717 (Linking)
VI  - 93
IP  - 2
DP  - 1994 Feb
TI  - Evidence for genetic heterogeneity underlying hereditary neuropathy with 
      liability to pressure palsies.
PG  - 151-6
AB  - Hereditary neuropathy with liability to pressure palsies (HNPP) is a disorder of 
      the peripheral nervous system, the cause of which has recently been identified as 
      a deletion on chromosome 17p. The deletion corresponds to the duplication that is 
      commonly observed in patients with hereditary motor and sensory neuropathy type 
      Ia (HMSNIa, 17p11.2-p12). Therefore, the gene for peripheral myelin protein 22 
      (PMP-22) is a candidate gene for both HMSNIa and HNPP. Here, we show that a 
      similar deletion is present in one family with HNPP but is clearly absent in 
      another family. Affected members of this family carry the expected two copies of 
      the PMP-22 gene and the surrounding region. Furthermore, linkage analyses of this 
      family exclude a large part of 17p, spanning the area deleted in other families 
      with HNPP, as the location for the disease gene. These data strongly argue for 
      the existence of genetic heterogeneity underlying HNPP. Results from two-point 
      linkage analysis with markers on chromosome 1q are inconsistent with a possible 
      involvement of the locus for HMSNIb in the present family.
FAU - Mariman, E C
AU  - Mariman EC
AD  - Department of Human Genetics, University Hospital Nijmegen, The Netherlands.
FAU - Gabreels-Festen, A A
AU  - Gabreels-Festen AA
FAU - van Beersum, S E
AU  - van Beersum SE
FAU - Jongen, P J
AU  - Jongen PJ
FAU - van de Looij, E
AU  - van de Looij E
FAU - Baas, F
AU  - Baas F
FAU - Bolhuis, P A
AU  - Bolhuis PA
FAU - Ropers, H H
AU  - Ropers HH
FAU - Gabreels, F J
AU  - Gabreels FJ
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Germany
TA  - Hum Genet
JT  - Human genetics
JID - 7613873
RN  - 0 (DNA Primers)
RN  - 0 (Genetic Markers)
RN  - 0 (Myelin Proteins)
RN  - 0 (PMP22 protein, human)
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - Base Sequence
MH  - Chromosome Deletion
MH  - Chromosomes, Human, Pair 17
MH  - DNA/analysis
MH  - DNA Primers
MH  - Electrophoresis, Polyacrylamide Gel
MH  - Female
MH  - Genetic Linkage
MH  - Genetic Markers
MH  - Genetic Variation
MH  - Hereditary Sensory and Motor Neuropathy/genetics
MH  - Humans
MH  - Male
MH  - Molecular Sequence Data
MH  - Multigene Family
MH  - Myelin Proteins/genetics
MH  - Pedigree
MH  - Peripheral Nervous System Diseases/*genetics
EDAT- 1994/02/01 00:00
MHDA- 1994/02/01 00:01
CRDT- 1994/02/01 00:00
PHST- 1994/02/01 00:00 [pubmed]
PHST- 1994/02/01 00:01 [medline]
PHST- 1994/02/01 00:00 [entrez]
AID - 10.1007/BF00210601 [doi]
PST - ppublish
SO  - Hum Genet. 1994 Feb;93(2):151-6. doi: 10.1007/BF00210601.