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Evidence for a relatively high proportion of DM2 mutations in a large group of Polish patients
Anna Sulek1, Anna Lusakowska2, Wioletta Krysa1
1Department of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland.
Introduction:
Myotonic dystrophies (DMs) type 1 (DM1) and type 2 (DM2) are autosomal dominant, multisystem disorders, considered the most common dystrophies in adults. DM1 and DM2 are caused by dynamic mutations in the DMPK and CNBP genes, respectively.
Methods:
Molecular analyses were performed by PCR and the modified RP-PCR in patients, in their at-risk relatives and prenatal cases.
Results:
The analysis of Polish controls revealed the range of 5-31 CTG repeats for DM1 and 110-228 bp alleles for DM2. Among 318 confirmed probands - 196 (62%) were DM1 and 122 (38%) - DM2. Within DM1families, 10 subjects carried a low expanded CTG tract (< 100 repeats), which resulted in a full mutation in subsequent generations. Two related individuals had unstable alleles-188 bp and 196 bp without common interruptions.
Conclusion:
The relative frequencies of DM1/DM2 among Polish patients were 68% and 32%, respectively, with a relatively high proportion of DM2 mutations (1.6:1).
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