No evidence for pathogenic variants or maternal effect of ZFP57 as the cause of Beckwith-Wiedemann Syndrome

被引：12

作者：

Boonen, Susanne E. ^{[1
,2
]}

Hahnemann, Johanne M. D. ^{[1
]}

Mackay, Deborah ^{[3
,4
]}

Tommerup, Niels ^{[2
]}

Brondum-Nielsen, Karen ^{[1
,5
]}

Tumer, Zeynep ^{[1
,5
]}

Gronskov, Karen ^{[1
,5
]}

机构：

[1] Kennedy Ctr, Ctr Appl Human Mol Genet, DK-2600 Glostrup, Denmark

[2] Univ Copenhagen, Panum Inst, Dept Cellular & Mol Med, Wilhelm Johannsen Ctr Funct Genome Res, DK-2200 Copenhagen N, Denmark

[3] Southampton Univ Hosp Trusts, Wessex Genet Serv, Southampton SO16 5Y, Hants, England

[4] Salisbury Hosp NHS Fdn Trust, Salisbury, Wilts, England

[5] Univ Copenhagen, Fac Hlth Sci, Copenhagen, Denmark

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2012年 / 20卷 / 01期

关键词：

Beckwith-Wiedemann syndrome; imprinting; hypomethylation; ZFP57; maternal effect genes; germline alterations; METHYLATION ANALYSIS; HYPOMETHYLATION; SILVER; INDIVIDUALS; MUTATIONS; REVEALS; LOCI;

D O I：

10.1038/ejhg.2011.140

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome, which, in 50-60% of sporadic cases, is caused by hypomethylation of KCNQ1OT1 differentially methylated region (DMR) at chromosome 11p15.5. The underlying defect of this hypomethylation is largely unknown. Recently, recessive mutations of the ZFP57 gene were reported in patients with transient neonatal diabetes mellitus type 1, showing hypomethylation at multiple imprinted loci, including KCNQ1OT1 DMR in some. The aim of our study was to determine whether ZFP57 alterations were a genetic cause of the hypomethylation at KCNQ1OT1 DMR in patients with BWS. We sequenced ZFP57 in 27 BWS probands and in 23 available mothers to test for a maternal effect. We identified three novel, presumably benign sequence variants in ZFP57; thus, we found no evidence for ZFP57 alterations as a major cause in sporadic BWS cases. European Journal of Human Genetics (2012) 20, 119-121; doi:10.1038/ejhg.2011.140; published online 24 August 2011

引用

页码：119 / 121

页数：3

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