The genetic aetiology of Silver-Russell syndrome

被引：131

作者：

Abu-Amero, S. ^{[1
]}

Monk, D. ^{[1
]}

Frost, J. ^{[1
]}

Preece, M. ^{[1
]}

Stanier, P. ^{[1
]}

Moore, G. E. ^{[1
]}

机构：

[1] UCL, Inst Child Hlth, London WC1N 1EH, England

来源：

JOURNAL OF MEDICAL GENETICS | 2008年 / 45卷 / 04期

基金：

英国医学研究理事会; 英国惠康基金;

关键词：

D O I：

10.1136/jmg.2007.053017

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Silver-Russell syndrome (SRS MIM180860) is a disorder characterised by intrauterine and/or postnatal growth restriction and typical facies. However, the clinical picture is extremely diverse due to numerous diagnostic features reflecting a heterogeneous genetic disorder. The mode of inheritance is variable with sporadic cases also being described. Maternal uniparental disomy (mUPD) of chromosome 7 accounts for 10% of SRS cases and many candidate imprinted genes on 7 have been investigated. Chromosome 11 has moved to the forefront as the key chromosome in the aetiology, with reports of methylation defects in the H19 imprinted domain associated with the phenotype in 35-65% of SRS patients. Methylation aberrations have been described in a number of other imprinted growth related disorders such as Beckwith-Wiedmann syndrome. This review discusses these recent developments as well as the previous work on chromosome 7. Other candidate genes/chromosomal regions previously investigated are tabled.

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页码：193 / 199

页数：7

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