DNA methylation studies on imprinted loci in a male monozygotic twin pair discordant for Beckwith-Wiedemann syndrome
| Autor: | K. D. Zang, Jörn Walter, J Meng-Hentschel, D. Leitner, Sascha Tierling, N Y Souren, S. Reither, B Oehl-Jaschkowitz |
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| Přispěvatelé: | Complexe Genetica, RS: NUTRIM - R4 - Gene-environment interaction, Genetica & Celbiologie |
| Jazyk: | angličtina |
| Rok vydání: | 2011 |
| Předmět: |
Adult
Genetic Markers Male Beckwith-Wiedemann Syndrome Buccal swab Beckwith–Wiedemann syndrome Monozygotic twin Biology Genomic Imprinting Genetics medicine Humans Epigenetics Genetic Association Studies Genetics (clinical) Chromosomes Human Pair 11 Infant Newborn Karyotype Twins Monozygotic Methylation DNA Methylation Uniparental Disomy medicine.disease Differentially methylated regions Genetic Loci Potassium Channels Voltage-Gated Child Preschool DNA methylation Female |
| Zdroj: | Clinical Genetics, 79(6), 546-553. Wiley |
| ISSN: | 0009-9163 |
| DOI: | 10.1111/j.1399-0004.2010.01482.x |
| Popis: | Tierling S, Souren NY, Reither S, Zang KD, Meng-Hentschel J, Leitner D, Oehl-Jaschkowitz B, Walter J. DNA methylation studies on imprinted loci in a male monozygotic twin pair discordant for Beckwith–Wiedemann syndrome. Beckwith–Wiedemann syndrome (BWS) is one of the most prevalent congenital disorders predominantly caused by epigenetic alterations. Here we present an extensive case study of a monozygotic monochorionic male twin pair discordant for BWS. Our analysis allows to correlate BWS symptoms, like a protruding tongue, indented ears and transient neonatal hypoglycaemia, to an abnormal methylation at the KvDMR1. DNAs extracted from peripheral blood, skin fibroblasts, saliva and buccal swab of both twins, their sister and parents were analysed at 11 differentially methylated regions (DMRs) including all four relevant DMRs of the BWS region. The KvDMR1 was exclusively found to be hypomethylated in all cell types of the affected BWS twin, while the unaffected twin and the relatives showed normal methylation in fibroblasts, buccal swab and saliva DNA. Interestingly, the twins share a common blood-specific hypomethylation phenotype most probably caused by a feto-fetal transfusion between both twins. Because microsatellite analysis furthermore revealed a normal biparental karyotype for chromosome 11, our results point to an exclusive correlation of the observed BWS symptoms to locally restricted epimutations at the KvDMR1 of the maternal chromosome. |
| Databáze: | OpenAIRE |
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