Highly unstable sequence interruptions of the CTG repeat in the myotonic dystrophy gene
| Autor: | Radka Jaklova, Radim Mazanec, Tomas Prochazka, Edvard Ehler, Zuzana Musova, Josef Kraus, Tatana Marikova, Zdenek Sedlacek, Jiri Vales, Petr Koukal, Anna Krepelova, Marketa Havlovicova |
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| Rok vydání: | 2009 |
| Předmět: |
Adult
Male congenital hereditary and neonatal diseases and abnormalities DNA Mutational Analysis Protein Serine-Threonine Kinases Biology Myotonic dystrophy Genomic Instability Myotonin-Protein Kinase Young Adult Gene Frequency Trinucleotide Repeats Genetics medicine Humans Family Muscular dystrophy Allele Repeated sequence Gene Genetics (clinical) Sequence (medicine) Base Sequence Middle Aged Myotonia medicine.disease Phenotype Pedigree Case-Control Studies Female Gene Deletion |
| Zdroj: | American Journal of Medical Genetics Part A. :1365-1374 |
| ISSN: | 1552-4833 1552-4825 |
| Popis: | Myotonic dystrophy type 1 is caused by the expansion of a CTG repeat in the 3′ UTR of the DMPK gene. A length exceeding 50 CTG triplets is pathogenic. Intermediate alleles with 35–49 triplets are not disease-causing but show instability in intergenerational transmissions. We report on the identification of multiple patients with different patterns of CCG and CTC interruptions in the DMPK CTG repeat tract that display unique intergenerational instability. In patients bearing interrupted expanded alleles, the location of the interruptions changed dramatically between generations and the repeats tended to contract. The phenotype for these patients corresponded to the classical form of the disease, but in some cases without muscular dystrophy and possibly with a later onset than expected. Symptomatic patients bearing interrupted intermediate length repeat tracts were also identified, although the role of the interruptions in their phenotype remains unclear. The identification of interruptions in the DMPK repeat has important consequences for molecular genetic testing where they can lead to false negative conclusions. © 2009 Wiley-Liss, Inc. |
| Databáze: | OpenAIRE |
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