Monozygous triplets discordant for transient neonatal diabetes mellitus and for imprinting of the TNDM differentially methylated region

S G Kant; A M van der Weij; W Oostdijk; J M Wit; D O Robinson; I K Temple; D J G Mackay

doi:10.1007/s00439-005-1304-1

Monozygous triplets discordant for transient neonatal diabetes mellitus and for imprinting of the TNDM differentially methylated region

Hum Genet. 2005 Aug;117(4):398-401. doi: 10.1007/s00439-005-1304-1. Epub 2005 May 28.

Authors

S G Kant¹, A M van der Weij, W Oostdijk, J M Wit, D O Robinson, I K Temple, D J G Mackay

Affiliation

¹ Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

PMID: 15924231
DOI: 10.1007/s00439-005-1304-1

Abstract

Transient neonatal diabetes mellitus (TNDM) is associated with paternal over-expression of an imprinted locus on chromosome 6q24, which contains one differentially methylated region (DMR); maternal demethylation at the DMR accounts for approximately 20% of cases. Here we report female monozygous triplets, two of whom have TNDM arising from loss of maternal methylation within the TNDM DMR.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Chromosomes, Human, Pair 6 / genetics*
DNA Methylation*
Diabetes Mellitus / genetics*
Female
Genomic Imprinting / genetics*
Humans
Infant, Newborn
Infant, Newborn, Diseases / genetics*
Microsatellite Repeats / genetics
Polymerase Chain Reaction / methods
Triplets / genetics*