广西医学2025，Vol.47Issue(4)：554-558,5.DOI:10.11675/j.issn.0253-4304.2025.04.11
8例Silver-Russell综合征患儿的临床表型与遗传学分析
Analysis of clinical phenotype and genetics in 8 children with Silver-Russell syndrome
摘要
Abstract
Objective To summarize the clinical phenotype and genetics characteristics in children with Silver-Russell syndrome(SRS).Methods The clinical data of 8 children with SRS were analyzed,including basic information,clinical phenotype and treatment situation,etc.DNA was extracted from peripheral blood of children with SRS.Copy number variation and methylation level of chromosome 11p15(11p15)and uniparental disomy(UPD)of chromosome 7 in SRS children were detected by methylation-specific multiplex ligation-dependent probe amplification(MS-MLPA).Results Eight SRS children presented as short stature and special facial features(triangular faces were more common),of which 5 cases had a history of small for gestational age infants,and 6 cases had limb asymmetry.MS-MLPA detection results suggested that 7 cases were hypomethylated imprinting control region 1(ICR1)of 11p15,and 1 case was maternal UPD of chromosome 7(UPD[7]mat).In children with 11p15 ICR1 hypomethylation,the lower the methylation level was,the more severe the short stature of children would be.Children with UPD(7)mat had severe short stature.The height of 3 children treated with recombinant human growth hormone was improved compared with before.Conclusion The diagnosis of SRS mainly depends on the clinical phenotypes such as severe short stature,small for gestational age infants,triangular face,and limb asymmetry.MS-MLPA detection can clarify the etiology of most children with SRS,and further guide the treatment and prognosis evaluation according to the methylation level.关键词
Silver-Russell综合征/临床表型/遗传学病因/甲基化特异性多重连接探针扩增法/罕见病Key words
Silver-Russell syndrome/Clinical phenotypes/Genetic etiology/Methylation-specific multiplex ligation-dependent probe amplification/Rare disease分类
临床医学引用本文复制引用
覃海兰,谢波波,韦冰梅,桂宝恒,石妹珍,陈玉君..8例Silver-Russell综合征患儿的临床表型与遗传学分析[J].广西医学,2025,47(4):554-558,5.基金项目
国家自然科学基金(82160315) （82160315）
广西自然科学基金(2021GXNSFAA196047) （2021GXNSFAA196047）
