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Article

Clinical characterisation of the multiple maternal hypomethylation syndrome in siblings.

European journal of human genetics : EJHG - 1 Apr 2008

Boonen Susanne E, Pörksen Sven, Mackay Deborah Jg, Oestergaard Elsebet, Olsen Birthe, Brondum-Nielsen Karen, Temple I Karen, Hahnemann Johanne Md

Abstract excerpt

We present the first clinical report of sibs with the multiple maternal hypomethylation syndrome. Both sisters presented with transient neonatal diabetes mellitus (TNDM). By methylation-specific PCR of bisulphite-treated DNA, we found a mosaic spectrum of hypomethylation at the following maternally methylated loci in both sibs: ZAC (6q24), KCNQ1OT1 (11p15.5), GRB10 (7p11.2-12), PEG3 (19q13), PEG1/MEST (7q32), and...

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Source

Identifiers

PMID: 18197189
DOI: 10.1038/sj.ejhg.5201993

Genes

GRB10
MEST
PEG3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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