Evidence for a relatively high proportion of DM2 mutations in a large group of Polish patients.
作者信息
Sulek Anna, Lusakowska Anna, Krysa Wioletta, Rajkiewicz Marta, Kaminska Anna, Nojszewska Monika, Kostera-Pruszczyk Anna, Zdzienicka Elzbieta, Kubalska Jolanta, Rakowicz Maria, Szirkowiec Walentyna, Kwiecinski Hubert, Zaremba Jacek
机构信息
Department of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland.
Department of Neurology, Medical University of Warsaw, Warsaw, Poland.
出版信息
Neurol Neurochir Pol. 2018 Nov-Dec;52(6):736-742. doi: 10.1016/j.pjnns.2018.02.008. Epub 2018 Mar 7.
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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