A 14-Year Italian Experience in DM2 Genetic Testing: Frequency and Distribution of Normal and Premutated CNBP Alleles.

ABSTRACT: Myotonic dystrophy type 2 (DM2) is a multisystemic disorder caused by a (CCTG) _n in intron 1 of the CNBP gene. The CCTG repeat tract is part of a complex (TG) _v (TCTG) _w (CCTG) _x (NCTG) _y (CCTG) _z motif generally interrupted in CNBP healthy range alleles. Here we report our 14-year experience of DM2 postnatal genetic testing in a total of 570 individuals. The DM2 locus has been analyzed by a combination of SR-PCR, TP-PCR, LR-PCR, and Sanger sequencing of CNBP alleles. DM2 molecular diagnosis has been confirmed in 187/570 samples analyzed (32.8%) and is mainly associated with the presence of myotonia in patients. This set of CNBP alleles showed unimodal dis

SUBMITTER: Botta A 

PROVIDER: S-EPMC8255792 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature