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Transient neonatal diabetes, ZFP57, and hypomethylation of multiple imprinted loci: a detailed follow-up.

Journal article
Authors Susanne E Boonen
Deborah J G Mackay
Johanne M D Hahnemann
Louise Docherty
Karen Grønskov
Anna Lehmann
Lise G Larsen
Andreas P Haemers
Yves Kockaerts
Lutgarde Dooms
Dung Chí Vu
C T Bich Ngoc
Phuong Bich Nguyen
Olga Kordonouri
Frida Sundberg
Pinar Dayanikli
Vijith Puthi
Carlo Acerini
Ahmed F Massoud
Zeynep Tümer
I Karen Temple
Published in Diabetes care
Volume 36
Issue 3
Pages 505-12
ISSN 1935-5548
Publication year 2013
Published at
Pages 505-12
Language en
Keywords DNA Methylation, genetics, Diabetes Mellitus, Type 1, genetics, Genetic Predisposition to Disease, genetics, Genomic Imprinting, genetics, Genotype, Humans, Infant, Newborn, Infant, Newborn, Diseases, Phenotype
Subject categories Pediatrics

Abstract

Transient neonatal diabetes mellitus 1 (TNDM1) is the most common cause of diabetes presenting at birth. Approximately 5% of the cases are due to recessive ZFP57 mutations, causing hypomethylation at the TNDM locus and other imprinted loci (HIL). This has consequences for patient care because it has impact on the phenotype and recurrence risk for families. We have determined the genotype, phenotype, and epigenotype of the first 10 families to alert health professionals to this newly described genetic subgroup of diabetes.

Page Manager: Webmaster|Last update: 9/11/2012
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