PMID- 9933299
OWN - NLM
STAT- MEDLINE
DCOM- 20000407
LR  - 20191102
IS  - 1364-6745 (Print)
IS  - 1364-6745 (Linking)
VI  - 2
IP  - 1
DP  - 1998 Dec
TI  - 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.
PG  - 43-6
AB  - 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.
FAU - Fuchs, C
AU  - Fuchs C
AD  - Institute of Human Genetics, Schwabachanlage 10, D-91054 Erlangen, Germany.
FAU - Liehr, T
AU  - Liehr T
FAU - Ozbey, S
AU  - Ozbey S
FAU - Ekici, A
AU  - Ekici A
FAU - Grehl, H
AU  - Grehl H
FAU - Rautenstrauss, B
AU  - Rautenstrauss B
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Neurogenetics
JT  - Neurogenetics
JID - 9709714
RN  - 9007-49-2 (DNA)
RN  - EC 3.1.21.- (Deoxyribonuclease EcoRI)
RN  - EC 3.1.21.- (endodeoxyribonuclease SacI)
RN  - EC 3.1.21.4 (Deoxyribonucleases, Type II Site-Specific)
SB  - IM
MH  - Adult
MH  - Charcot-Marie-Tooth Disease/*diagnosis/*genetics
MH  - Chromosome Mapping
MH  - *Chromosomes, Human, Pair 17
MH  - DNA/blood
MH  - Deoxyribonuclease EcoRI
MH  - Deoxyribonucleases, Type II Site-Specific
MH  - Diagnostic Errors
MH  - Female
MH  - Gene Duplication
MH  - *Genetic Predisposition to Disease
MH  - Humans
MH  - Male
MH  - Nuclear Family
MH  - Pedigree
MH  - *Polymorphism, Restriction Fragment Length
EDAT- 1999/05/18 05:15
MHDA- 2001/07/04 10:01
CRDT- 1999/05/18 05:15
PHST- 1999/05/18 05:15 [pubmed]
PHST- 2001/07/04 10:01 [medline]
PHST- 1999/05/18 05:15 [entrez]
AID - 9800050 [pii]
AID - 10.1007/s100480050050 [doi]
PST - ppublish
SO  - Neurogenetics. 1998 Dec;2(1):43-6. doi: 10.1007/s100480050050.