Monozygous triplets discordant for transient neonatal diabetes mellitus and for imprinting of the TNDM differentially methylated region.
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.
Kant
S G
SG
Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
van der Weij
A M
AM
Oostdijk
W
W
Wit
J M
JM
Robinson
D O
DO
Temple
I K
IK
Mackay
D J G
DJ
D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D019175:DNA Methylation; D003920:Diabetes Mellitus / Q000235:genetics*; D005260:Female; D018392:Genomic Imprinting / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000235:genetics*; D018895:Microsatellite Repeats / Q000235:genetics; D016133:Polymerase Chain Reaction / Q000379:methods; D014310:Triplets / Q000235:genetics*