open access

Vol 52, No 6 (2018)
Original research articles
Submitted: 2019-11-05
Accepted: 2019-11-05
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Evidence for a relatively high proportion of DM2 mutations in a large group of Polish patients

Anna Sulek, Anna Lusakowska, Wioletta Krysa, Marta Rajkiewicz, Anna Kaminska, Monika Nojszewska, Anna Kostera-Pruszczyk, Elzbieta Zdzienicka, Jolanta Kubalska, Maria Rakowicz, Walentyna Szirkowiec, Hubert Kwiecinski, Jacek Zaremba
Pubmed: 29588063
·
Neurol Neurochir Pol 2018;52(6):736-742.

open access

Vol 52, No 6 (2018)
Original research articles
Submitted: 2019-11-05
Accepted: 2019-11-05

Abstract

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).

Abstract

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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Keywords

Myotonic dystrophy, Myotonia, Dynamic mutation, CTG/CCTG repeats, Microsatellite instability

About this article
Title

Evidence for a relatively high proportion of DM2 mutations in a large group of Polish patients

Journal

Neurologia i Neurochirurgia Polska

Issue

Vol 52, No 6 (2018)

Pages

736-742

Pubmed

29588063

Bibliographic record

Neurol Neurochir Pol 2018;52(6):736-742.

Keywords

Myotonic dystrophy
Myotonia
Dynamic mutation
CTG/CCTG repeats
Microsatellite instability

Authors

Anna Sulek
Anna Lusakowska
Wioletta Krysa
Marta Rajkiewicz
Anna Kaminska
Monika Nojszewska
Anna Kostera-Pruszczyk
Elzbieta Zdzienicka
Jolanta Kubalska
Maria Rakowicz
Walentyna Szirkowiec
Hubert Kwiecinski
Jacek Zaremba

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