Transient Neonatal Diabetes, ZFP57, and Hypomethylation ofMultiple Imprinted Loci A detailed follow-up
نویسندگان
چکیده
SUSANNE E. BOONEN, MD, PHD DEBORAH J.G. MACKAY, PHD JOHANNE M.D. HAHNEMANN, MD, PHD LOUISE DOCHERTY, PHD KAREN GRØNSKOV, PHD ANNA LEHMANN, PHD LISE G. LARSEN, MD ANDREAS P. HAEMERS, MD YVES KOCKAERTS, MD LUTGARDE DOOMS, MD D~ uNG CH I V~ u, MD C.T. BICH NGOC, MD PHUONG BICH NGUYEN, MD OLGA KORDONOURI, MD FRIDA SUNDBERG, MD PINAR DAYANIKLI, MD, FAAP VIJITH PUTHI, MD CARLO ACERINI, MD AHMED F. MASSOUD, MD, MBBS, FRCP,
منابع مشابه
Transient Neonatal Diabetes, ZFP57, and Hypomethylation of Multiple Imprinted Loci
OBJECTIVE 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 genot...
متن کاملSilver-Russell patients showing a broad range of ICR1 and ICR2 hypomethylation in different tissues.
In all known congenital imprinting disorders an association with aberrant methylation or mutations at specific loci was well established. However, several patients with transient neonatal diabetes mellitus (TNDM), Silver-Russell syndrome (SRS) and Beckwith-Wiedemann syndrome (BWS) exhibiting multilocus hypomethylation (MLH) have meanwhile been described. Whereas TNDM patients with MLH show clin...
متن کاملGenetic and epigenetic mutations affect the DNA binding capability of human ZFP57 in transient neonatal diabetes type 1
In the mouse, ZFP57 contains three classical Cys2His2 zinc finger domains (ZF) and recognizes the methylated TGC(met)CGC target sequence using the first and the second ZFs. In this study, we demonstrate that the human ZFP57 (hZFP57) containing six Cys2His2 ZFs, binds the same methylated sequence through the third and the fourth ZFs, and identify the aminoacids critical for DNA interaction. In a...
متن کاملTransient Neonatal Diabetes Mellitus in a Turkish Patient with Three Novel Homozygous Variants in the ZFP57 Gene
Neonatal diabetes mellitus (NDM) is a rare form of diabetes that presents within the first six months of life. Nearly 70% of these cases have loss of methylation at the differentially methylated region on chromosome 6q24. To describe the findings in a Turkish male patient with NDM caused by a loss of methylation at chromosome 6q24 and three novel homozygous mutations in the ZFP57 gene, methylat...
متن کاملZFP57 maintains the parent-of-origin-specific expression of the imprinted genes and differentially affects non-imprinted targets in mouse embryonic stem cells
ZFP57 is necessary for maintaining repressive epigenetic modifications at Imprinting control regions (ICRs). In mouse embryonic stem cells (ESCs), ZFP57 binds ICRs (ICRBS) and many other loci (non-ICRBS). To address the role of ZFP57 on all its target sites, we performed high-throughput and multi-locus analyses of inbred and hybrid mouse ESC lines carrying different gene knockouts. By using an ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
دوره شماره
صفحات -
تاریخ انتشار 2012