PMID- 9292696
OWN - NLM
STAT- MEDLINE
DCOM- 19971023
LR  - 20190812
IS  - 0001-6322 (Print)
IS  - 0001-6322 (Linking)
VI  - 94
IP  - 3
DP  - 1997 Sep
TI  - Molecular diagnosis of PMP22-associated neuropathies using fluorescence in situ 
      hybridization (FISH) on archival peripheral nerve tissue preparations.
PG  - 266-71
AB  - Charcot-Marie-Tooth (CMT) syndrome type 1 and tomaculous neuropathy, also called 
      hereditary neuropathy with liability to pressure palsies (HNPP), represent two 
      groups of neurological disorders with different subtypes, which can be 
      distinguished at the molecular level. It is known that a 1.5-mb region on 
      chromosome 17p11.2-12, which includes the gene for the peripheral myelin protein 
      22 kDa (PMP22), is duplicated in more than 95% of patients with CMT type 1A 
      (CMT1A; gene dosage 3) and is deleted in about 90% of subjects suffering from 
      HNPP (gene dosage 1). This duplication/deletion can be detected reliably by 
      interphase-two-color fluorescence in situ hybridization (FISH). We report here a 
      technique for extraction of nuclei from paraffin-embedded and cryofixed sural 
      nerve biopsies for precise molecular diagnosis, employing interphase-two-color 
      FISH in clinically diagnosed CMT1 or HNPP patients. Following this technique we 
      were able to identify six CMT1A duplications in 13 clinically diagnosed CMT1 
      cases and five HNPP deletions in 6 clinically diagnosed HNPP cases; 8 control 
      persons were included in this study. This is the first report on the use of FISH 
      in the detection of 17p11.2-12 duplication and deletion in archival biopsy 
      material.
FAU - Liehr, T
AU  - Liehr T
AD  - Institute of Human Genetics, Erlangen, Germany.
FAU - Grehl, H
AU  - Grehl H
FAU - Rautenstrauss, B
AU  - Rautenstrauss B
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Germany
TA  - Acta Neuropathol
JT  - Acta neuropathologica
JID - 0412041
RN  - 0 (Myelin Proteins)
RN  - 0 (PMP22 protein, human)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - Charcot-Marie-Tooth Disease/metabolism/pathology
MH  - Child, Preschool
MH  - Female
MH  - Hereditary Sensory and Motor Neuropathy/metabolism/pathology
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - Middle Aged
MH  - Myelin Proteins/*metabolism
MH  - Peripheral Nervous System Diseases/metabolism/*pathology
MH  - Sural Nerve/metabolism/pathology
EDAT- 1997/09/18 00:00
MHDA- 1997/09/18 00:01
CRDT- 1997/09/18 00:00
PHST- 1997/09/18 00:00 [pubmed]
PHST- 1997/09/18 00:01 [medline]
PHST- 1997/09/18 00:00 [entrez]
AID - 10.1007/s004010050702 [doi]
PST - ppublish
SO  - Acta Neuropathol. 1997 Sep;94(3):266-71. doi: 10.1007/s004010050702.