Molecular Genetics and Genetic Testing in Myotonic Dystrophy Type 1
Joint Authors
Savić Pavićević, Dušanka
Miladinović, Jelena
Brkušanin, Miloš
Šviković, Saša
Djurica, Svetlana
Brajušković, Goran
Romac, Stanka
Source
Issue
Vol. 2013, Issue 2013 (31 Dec. 2013), pp.1-13, 13 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2013-03-18
Country of Publication
Egypt
No. of Pages
13
Main Subjects
Abstract EN
Myotonic dystrophy type 1 (DM1) is the most common adult onset muscular dystrophy, presenting as a multisystemic disorder with extremely variable clinical manifestation, from asymptomatic adults to severely affected neonates.
A striking anticipation and parental-gender effect upon transmission are distinguishing genetic features in DM1 pedigrees.
It is an autosomal dominant hereditary disease associated with an unstable expansion of CTG repeats in the 3′-UTR of the DMPK gene, with the number of repeats ranging from 50 to several thousand.
The number of CTG repeats broadly correlates with both the age-at-onset and overall severity of the disease.
Expanded DM1 alleles are characterized by a remarkable expansion-biased and gender-specific germline instability, and tissue-specific, expansion-biased, age-dependent, and individual-specific somatic instability.
Mutational dynamics in male and female germline account for observed anticipation and parental-gender effect in DM1 pedigrees, while mutational dynamics in somatic tissues contribute toward the tissue-specificity and progressive nature of the disease.
Genetic test is routinely used in diagnostic procedure for DM1 for symptomatic, asymptomatic, and prenatal testing, accompanied with appropriate genetic counseling and, as recommended, without predictive information about the disease course.
We review molecular genetics of DM1 with focus on those issues important for genetic testing and counseling.
American Psychological Association (APA)
Savić Pavićević, Dušanka& Miladinović, Jelena& Brkušanin, Miloš& Šviković, Saša& Djurica, Svetlana& Brajušković, Goran…[et al.]. 2013. Molecular Genetics and Genetic Testing in Myotonic Dystrophy Type 1. BioMed Research International،Vol. 2013, no. 2013, pp.1-13.
https://search.emarefa.net/detail/BIM-1004193
Modern Language Association (MLA)
Savić Pavićević, Dušanka…[et al.]. Molecular Genetics and Genetic Testing in Myotonic Dystrophy Type 1. BioMed Research International No. 2013 (2013), pp.1-13.
https://search.emarefa.net/detail/BIM-1004193
American Medical Association (AMA)
Savić Pavićević, Dušanka& Miladinović, Jelena& Brkušanin, Miloš& Šviković, Saša& Djurica, Svetlana& Brajušković, Goran…[et al.]. Molecular Genetics and Genetic Testing in Myotonic Dystrophy Type 1. BioMed Research International. 2013. Vol. 2013, no. 2013, pp.1-13.
https://search.emarefa.net/detail/BIM-1004193
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1004193