Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57

被引：383

作者：

Mackay, Deborah J. G. ^{[1
,2
]}

Callaway, Jonathan L. A. ^{[1
,2
]}

Marks, Sophie M. ^{[2
]}

White, Helen E. ^{[3
]}

Acerini, Carlo L. ^{[4
]}

Boonen, Susanne E. ^{[5
]}

Dayanikli, Pinar ^{[6
]}

Firth, Helen V. ^{[7
]}

Goodship, Judith A. ^{[8
]}

Haemers, Andreas P.

Hahnemann, Johanne M. D. ^{[9
]}

Kordonouri, Olga ^{[10
]}

Masoud, Ahmed F. ^{[11
]}

Oestergaard, Elsebet ^{[12
]}

Storr, John ^{[13
]}

Ellard, Sian ^{[14
]}

Hattersley, Andrew T. ^{[14
]}

Robinson, David O. ^{[1
,2
]}

Temple, I. Karen ^{[1
,15
]}

机构：

[1] Univ Southampton, Div Human Genet, Southampton SO16 6YD, England

[2] Salisbury Dist Hosp, Wessex Reg Genet Lab, Salisbury SP2 8BJ, England

[3] Natl Genet Reference Lab Wessex, Salisbury SP2 8BJ, England

[4] Univ Cambridge, Dept Paediat, Cambridge CB2 0QQ, England

[5] Kennedy Ctr, Genet Counselling Clin, DK-2600 Glostrup, Denmark

[6] Amer Hosp, TR-80200 Istanbul, Turkey

[7] Addenbrookes Hosp, Dept Med Genet, Cambridge CB2 0QQ, England

[8] Univ Newcastle, Inst Human Genet, Newcastle upon Tyne NE1 3BZ, Tyne & Wear, England

[9] Kennedy Ctr, Med Genet Lab, DK-2600 Glostrup, Denmark

[10] Kinderkrankenhaus Bult, D-30173 Hannover, Germany

[11] Northwick Pk Hosp & Clin Res Ctr, Childrens Serv, Harrow HA1 3UJ, Middx, England

[12] Natl Univ Hosp Rigshospitalet, Dept Clin Genet, DK-2100 Copenhagen, Denmark

[13] Cumberland Infirm, Dept Paediat, Carlisle CA2 7HY, Cumbria, England

[14] Peninsula Med Sch, Inst Biomed & Clin Sci, Exeter EX2 5DW, Devon, England

[15] Southampton Univ Hosp, Acad Unit Genet Med, Wessex Clin Genet Serv, Southampton SO16 5YA, England

来源：

NATURE GENETICS | 2008年 / 40卷 / 08期

关键词：

D O I：

10.1038/ng.187

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We have previously described individuals presenting with transient neonatal diabetes and showing a variable pattern of DNA hypomethylation at imprinted loci throughout the genome. We now report mutations in ZFP57, which encodes a zinc-finger transcription factor expressed in early development, in seven pedigrees with a shared pattern of mosaic hypomethylation and a conserved range of clinical features. This is the first description of a heritable global imprinting disorder that is compatible with life.

引用

页码：949 / 951

页数：3

共 15 条

[1] Identification of Zfp-57 as a downstream molecule of STAT3 and Oct-3/4 in embryonic stem cells [J].