PMID- 26505324
OWN - NLM
STAT- MEDLINE
DCOM- 20160921
LR  - 20220310
IS  - 1945-0257 (Electronic)
IS  - 1945-0257 (Linking)
VI  - 19
IP  - 12
DP  - 2015 Dec
TI  - Development and Validation of a New Molecular Diagnostic Assay for Detection of 
      Myotonic Dystrophy Type 2.
PG  - 703-9
LID - 10.1089/gtmb.2015.0135 [doi]
AB  - BACKGROUND: Myotonic dystrophy (DM) is the most common adult form of muscular 
      dystrophy, characterized by autosomal dominant progressive myopathy, myotonia, 
      and multiorgan involvement. Myotonic dystrophy type 2 (DM2) is caused by a [CCTG] 
      expansion in the ZNF9/CNBP gene. The aim of this work was the validation of the 
      new molecular diagnostic test Myotonic Dystrophy type 2 kit-FL. RESULTS: A cohort 
      of 126 individuals was analyzed. The results show that 126/126 patients were 
      correctly identified using the new molecular assay. In particular, 74 were DM2 
      positive, 39 were DM2/DM1 negative and 13 DM2 negative/DM1 positive. 
      Approximately 9.5% (7/74) of the DM2-positive samples had a single sizeable 
      expansion and 85% (63/74) showed multiple bands or smears. Comparative 
      fluorescence in situ hybridization (FISH) analyses, on muscle biopsies, revealed 
      that the sensitivity and specificity were very high (>99%). Equivalent analytical 
      performances were obtained using different DNA extraction methods. Among affected 
      individuals 87.5% (28/32) had electrical myotonia, 69% (22/32) proximal weakness, 
      41% (13/32) cataracts, and about 37.5% (12/32) cardiac conduction defects. FISH 
      analysis and clinical data were used to support the genetic analysis.
FAU - Valaperta, Rea
AU  - Valaperta R
AD  - 1 Research Laboratories-Molecular Biology, IRCCS Policlinico San Donato , Milan, 
      Italy .
AD  - 2 Service of Laboratory Medicine, IRCCS Policlinico San Donato , Milan, Italy .
FAU - Lombardi, Fortunata
AU  - Lombardi F
AD  - 1 Research Laboratories-Molecular Biology, IRCCS Policlinico San Donato , Milan, 
      Italy .
AD  - 2 Service of Laboratory Medicine, IRCCS Policlinico San Donato , Milan, Italy .
FAU - Cardani, Rosanna
AU  - Cardani R
AD  - 3 Laboratory of Muscle Histopathology and Molecular Biology, IRCCS Policlinico 
      San Donato , Milan, Italy .
FAU - Fossati, Barbara
AU  - Fossati B
AD  - 4 Department of Biomedical Sciences for Health, University of Milan , 
      IRCCS-Policlinico San Donato, Milan, Italy .
FAU - Brigonzi, Elisa
AU  - Brigonzi E
AD  - 4 Department of Biomedical Sciences for Health, University of Milan , 
      IRCCS-Policlinico San Donato, Milan, Italy .
FAU - Merli, Ilaria
AU  - Merli I
AD  - 4 Department of Biomedical Sciences for Health, University of Milan , 
      IRCCS-Policlinico San Donato, Milan, Italy .
FAU - Sansone, Valeria
AU  - Sansone V
AD  - 5 Neurorehabilitation Unit, University of Milan , NEMO Clinical Center 
      (NeuroMuscular Omnicomprehensive), Fondazione Serena, Milan, Italy .
FAU - Merletti, Giulia
AU  - Merletti G
AD  - 1 Research Laboratories-Molecular Biology, IRCCS Policlinico San Donato , Milan, 
      Italy .
FAU - Spina, Edoardo
AU  - Spina E
AD  - 1 Research Laboratories-Molecular Biology, IRCCS Policlinico San Donato , Milan, 
      Italy .
FAU - Meola, Giovanni
AU  - Meola G
AD  - 3 Laboratory of Muscle Histopathology and Molecular Biology, IRCCS Policlinico 
      San Donato , Milan, Italy .
AD  - 4 Department of Biomedical Sciences for Health, University of Milan , 
      IRCCS-Policlinico San Donato, Milan, Italy .
FAU - Costa, Elena
AU  - Costa E
AD  - 1 Research Laboratories-Molecular Biology, IRCCS Policlinico San Donato , Milan, 
      Italy .
AD  - 2 Service of Laboratory Medicine, IRCCS Policlinico San Donato , Milan, Italy .
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Validation Study
DEP - 20151027
PL  - United States
TA  - Genet Test Mol Biomarkers
JT  - Genetic testing and molecular biomarkers
JID - 101494210
RN  - 0 (CNBP protein, human)
RN  - 0 (RNA-Binding Proteins)
RN  - 0 (Reagent Kits, Diagnostic)
SB  - IM
MH  - Adult
MH  - Aged
MH  - Cohort Studies
MH  - *DNA Repeat Expansion
MH  - Female
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Myotonic Dystrophy/*diagnosis/*genetics/pathology
MH  - Predictive Value of Tests
MH  - RNA-Binding Proteins/*genetics
MH  - *Reagent Kits, Diagnostic
EDAT- 2015/10/28 06:00
MHDA- 2016/09/23 06:00
CRDT- 2015/10/28 06:00
PHST- 2015/10/28 06:00 [entrez]
PHST- 2015/10/28 06:00 [pubmed]
PHST- 2016/09/23 06:00 [medline]
AID - 10.1089/gtmb.2015.0135 [doi]
PST - ppublish
SO  - Genet Test Mol Biomarkers. 2015 Dec;19(12):703-9. doi: 10.1089/gtmb.2015.0135. 
      Epub 2015 Oct 27.