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A familial disorder of altered DNA-methylation

ABSTRACT: In a subset of imprinting disorders caused by epimutations, multiple imprinted loci are affected. We have investigated the clinical and molecular features of a familial DNA methylation disorder. Bisulphite converted DNA from the 60 samples were hybridised to the Illumina Infinium 27k Human Methylation Beadchip

ORGANISM(S): Homo sapiens

SUBMITTER: Ole Ammerpohl

PROVIDER: E-GEOD-47879 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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Deep bisulfite sequencing of aberrantly methylated loci in a patient with multiple methylation defects.

Beygo Jasmin J Ammerpohl Ole O Gritzan Daniela D Heitmann Melanie M Rademacher Katrin K Richter Julia J Caliebe Almuth A Siebert Reiner R Horsthemke Bernhard B Buiting Karin K

PloS one 20131009 10

NLRP7 is a maternal effect gene as maternal mutations in this gene cause recurrent hydatidiform moles, spontaneous abortions and stillbirths, whereas live births are very rare. We have studied a patient with multiple anomalies born to a mother with a heterozygous NLRP7 mutation. By array-based CpG methylation analysis of blood DNA from the patient, his parents and 18 normal controls on Illumina Infinium HumanMethylation27 BeadChips we found that the patient had methylation changes (delta ß ≥ 0.3 ...[more]

PMID: 24130816

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A familial disorder of altered DNA-methylation

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