An atypical case of hypomethylation at multiple imprinted loci

被引：31

作者：

Baple, Emma L. ^{[1
,3
]}

Poole, Rebecca L. ^{[2
,3
]}

Mansour, Sahar ^{[1
]}

Willoughby, Catherine ^{[1
]}

Temple, I. Karen ^{[2
,4
]}

Docherty, Louise E. ^{[2
,3
]}

Taylor, Rohan ^{[1
]}

Mackay, Deborah J. G. ^{[2
,3
]}

机构：

[1] St Georges NHS Trust, SW Thames Reg Genet Serv, London, England

[2] Univ Southampton, Sch Med, Div Human Genet, Southampton, Hants, England

[3] Salisbury Dist Hosp, Wessex Reg Genet Lab, Salisbury, Wilts, England

[4] Southampton Univ Hosp Trust, Princess Anne Hosp, Wessex Clin Genet Serv, Southampton, Hants, England

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2011年 / 19卷 / 03期

关键词：

Angelman; Prader-Willi; Beckwith-Wiedemann; imprinting; hypomethylation; PRADER-WILLI; METHYLATION ANALYSIS; REVEALS; BWS;

D O I：

10.1038/ejhg.2010.218

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：

Angelman syndrome (AS) and Prader-Willi syndrome (PWS) are caused by genetic and epigenetic mutations of the imprinted gene cluster on chromosome 15q13. Although the imprinting mutations causing PWS and AS are essentially opposite in nature, remarkably, a small number of patients have been reported with clinical features of PWS but epigenetic mutations consistent with AS. We report here a patient who presented with clinical features partially consistent with both PWS and Beckwith-Wiedemann syndrome (BWS). Epimutations were found at both the AS/PWS and BWS loci, and additionally at the H19, PEG3, NESPAS and GNAS loci. This patient is therefore the first described case with a primary epimutation consistent with AS accompanied by hypomethylation of other imprinted loci. European Journal of Human Genetics (2011) 19, 360-362; doi:10.1038/ejhg.2010.218; published online 5 January 2011

引用

页码：360 / 362

页数：3

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