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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 distribution with 25 different alleles ranging from 108 to 168 bp, in accordance with previous studies on European populations. The most frequent  CNBP  alleles consisted of 138, 134, 140, and 136 bps with an overall locus heterozygosity of 90%. Sequencing of 103 unexpanded  CNBP  alleles in DM2-positive patients revealed that (CCTG) 5 (NCTG) 3 (CCTG) 7  and (CCTG) 6 (NCTG) 3 (CCTG) 7  are the most common interruption motifs. We also characterized five  CNBP  premutated alleles with (CCTG)  n   repetitions from  n  = 36 to  n  = 53. However, the molecular and clinical consequences in our cohort of samples are not unequivocal. Data that emerged from this study are representative of the Italian population and are useful tools for National and European centers offering DM2 genetic testing and counseling.

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