PMID- 15718211
OWN - NLM
STAT- MEDLINE
DCOM- 20050714
LR  - 20191109
IS  - 1121-760X (Print)
IS  - 1121-760X (Linking)
VI  - 48
IP  - 4
DP  - 2004 Oct-Dec
TI  - Biomolecular identification of (CCTG)n mutation in myotonic dystrophy type 2 
      (DM2) by FISH on muscle biopsy.
PG  - 437-42
AB  - Myotonic dystrophy type 2 (DM2) is a dominantly inherited disorder with 
      multisystemic clinical features, caused by a CCTG repeat expansion in intron 1 of 
      the zinc finger protein 9 (ZNF9) gene. The mutant transcripts are retained in the 
      nucleus forming multiple discrete foci also called ribonuclear inclusions. The 
      size and the somatic instability of DM2 expansion complicate the molecular 
      diagnosis of DM2. In our study fluorescence-labeled CAGG-repeat oligonucleotides 
      were hybridized to muscle biopsies to investigate if fluorescence in situ 
      hybridization (FISH), a relatively quick and simple procedure, could be used as a 
      method to diagnose DM2. When FISH was performed with (CAGG)5 probe, nuclear foci 
      of mutant RNA were present in all genetically confirmed DM2 patients (n=17) and 
      absent in all patients with myotonic dystrophy type 1 (DM1; n=5) or with other 
      muscular disease (n=17) used as controls. In contrast, foci were observed both in 
      DM1 and DM2 myonuclei when muscle tissue were hybridized with (CAG)6CA probe 
      indicating that this probe is not specific for DM2 identification. The consistent 
      detection of ribonuclear inclusions in DM2 muscles and their absence in DM1, in 
      agreement with the clinical diagnosis and with leukocyte (CCTG)n expansion, 
      suggests that fluorescence in situ hybridization using (CAGG)5 probes, may be a 
      specific method to distinguish between DM1 and DM2. Moreover, the procedure is 
      simple, and readily applicable in any pathology laboratory.
FAU - Cardani, R
AU  - Cardani R
AD  - Dipartimento di Fisiologia e Biochimica Generali, Universita di Milano, Italy.
FAU - Mancinelli, E
AU  - Mancinelli E
FAU - Sansone, V
AU  - Sansone V
FAU - Rotondo, G
AU  - Rotondo G
FAU - Meola, G
AU  - Meola G
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Italy
TA  - Eur J Histochem
JT  - European journal of histochemistry : EJH
JID - 9207930
RN  - 0 (Molecular Probes)
SB  - IM
MH  - Adult
MH  - Aged
MH  - Base Sequence
MH  - Biopsy
MH  - *DNA Repeat Expansion
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - Middle Aged
MH  - Molecular Probes
MH  - Molecular Sequence Data
MH  - Muscle, Skeletal/*pathology
MH  - Myotonic Dystrophy/*genetics/pathology
EDAT- 2005/02/19 09:00
MHDA- 2005/07/15 09:00
CRDT- 2005/02/19 09:00
PHST- 2005/02/19 09:00 [pubmed]
PHST- 2005/07/15 09:00 [medline]
PHST- 2005/02/19 09:00 [entrez]
AID - 10.4081/918 [doi]
PST - ppublish
SO  - Eur J Histochem. 2004 Oct-Dec;48(4):437-42. doi: 10.4081/918.