Monozygous triplets discordant for transient neonatal diabetes mellitus and for imprinting of the TNDM differentially methylated region

被引：14

作者：

Kant, SG

van der Weij, AM

Oostdijk, W

Wit, JM

Robinson, DO

Temple, IK

Mackay, DJG ^{[1
]}

机构：

[1] Univ Southampton, Div Human Genet, Southampton, Hants, England

[2] Leiden Univ, Med Ctr, Ctr Human & Clin Genet, Leiden, Netherlands

[3] Leiden Univ, Med Ctr, Dept Paediat, Leiden, Netherlands

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

[5] Princess Anne Hosp, Wessex Clin Genet Serv, Southampton, Hants, England

来源：

HUMAN GENETICS | 2005年 / 117卷 / 04期

关键词：

Differentially Methylated Region; Imprint Locus; Neonatal Diabetes Mellitus; Biparental Inheritance; Transient Neonatal Diabetes Mellitus;

D O I：

10.1007/s00439-005-1304-1

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Transient neonatal diabetes mellitus (TNDM) is associated with paternal over-expression of an imprinted locus on chromosome 6q24, which contains one differentially methylated region (DMR); maternal demethylation at the DMR accounts for similar to 20% of cases. Here we report female monozygous triplets, two of whom have TNDM arising from loss of maternal methylation within the TNDM DMR.

引用

页码：398 / 401

页数：4

共 7 条

[1] Imprinting errors and developmental asymmetry [J].