1. Transient neonatal diabetes, ZFP57, and hypomethylation of multiple imprinted loci:a detailed follow-up
- Author
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Boonen, Susanne E, Mackay, Deborah J G, Hahnemann, Johanne M D, Docherty, Louise, Grønskov, Karen, Lehmann, Anna, Larsen, Lise G, Haemers, Andreas P, Kockaerts, Yves, Dooms, Lutgarde, Vu, Dung Chí, Ngoc, C T Bich, Nguyen, Phuong Bich, Kordonouri, Olga, Sundberg, Frida, Dayanikli, Pinar, Puthi, Vijith, Acerini, Carlo, Massoud, Ahmed F, Tümer, Zeynep, Temple, I Karen, Boonen, Susanne E, Mackay, Deborah J G, Hahnemann, Johanne M D, Docherty, Louise, Grønskov, Karen, Lehmann, Anna, Larsen, Lise G, Haemers, Andreas P, Kockaerts, Yves, Dooms, Lutgarde, Vu, Dung Chí, Ngoc, C T Bich, Nguyen, Phuong Bich, Kordonouri, Olga, Sundberg, Frida, Dayanikli, Pinar, Puthi, Vijith, Acerini, Carlo, Massoud, Ahmed F, Tümer, Zeynep, and Temple, I Karen
- 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.
- Published
- 2013