Dataset Information


Homo sapiens

ABSTRACT: A familial disorder of altered DNA-methylation

ORGANISM(S): Homo sapiens  



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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]

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