中国实用儿科杂志

中国实用儿科杂志

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小儿Sjögren-Larsson综合征临床特征及基因突变分析

高蕾1，蒋丽琼2，石秀玉1，张礼平3，孟岩1，邹丽萍1   

  1. 作者单位：1.中国人民解放军总医院儿童医学中心， 北京 100040； 2.浙江大学第一附属医院儿科， 浙江 杭州 310006； 3.首都医科大学宣武医院儿科， 北京 100040
  • 出版日期:2014-06-06 发布日期:2014-06-04
  • 通讯作者: 邹丽萍 

Analysis of clinical manifestations and gene mutations of Sjögren-Larsson syndrome.

GAO Lei，JIANG Li-qiong，SHI Xiu-yu，ZHANG Li-ping，，MENG Yan，ZOU Li-ping.   

  1. Children's Medical Center of General Hospital of PLA，Beijing 100040， China
  • Online:2014-06-06 Published:2014-06-04

摘要：

目的 分析4例 Sjögren-Larsson 综合征 （Sjögren-Larsson syndrome， SLS）患儿临床特征及ALDH3A2基因突变， 以明确诊断， 并为遗传咨询和产前诊断提供依据。方法 收集 2008—2013 年中国人民解放军总医院儿童医学中心收治的 4 例 Sjögren-Larsson 综合征患儿的临床资料。抽取外周静脉血各3 mL， 应用二氧化硅法提取基因组DNA。采用聚合酶链反应（PCR）扩增ALDH3A2基因的11个外显子及其与内含子的连接区。PCR产物直接测序法检测基因突变。结果 来自3个家系的4例患儿均存在先天性鱼鳞病、智力低下、痉挛性截瘫或四肢瘫等典型临床表现。3例患儿 ALDH3A2基因测序均检出基因突变。分别为：例1， IVS5-1del G， c.1157A＞G（p.Asn386Ser）； 例2和例3， c.1157A＞G （p.Asn386Ser）纯合突变； 例4基因检测未发现编码区致病突变。结论    明确了 4 例 Sjögren-Larsson综合征患儿的基因诊断， 发现 2个ALDH3A2基因突变位点，其中 IVS5-1del G为新发突变。

关键词: Sjö, gren-Larsson综合征, 神经皮肤综合征, ALDH3A2基因, 突变分析

Abstract:

Abstract： Objective To analyze ALDH3A2 mutation in four Chinese patients with Sjögren-Larsson syndrome （SLS）. Methods Four patients were clinically diagnosed with SLS. Respectively take 3 ml of peripheral blood. All 11 exons and exon-intron boundaries of ALDH3A2 gene were amplified by polymerase chain reaction （PCR） and directly sequenced for genomic DNA. Results 1. All four patients had congenital ichthyosis， mental retardation，and spastic diplegia or tetraplegia. Patient 1 had a compound heterozygote：c.1157A＞G inherited from her father， IVS5-1del G inherited from her mother. Both her parents had normal phenotype. Patient 2 and Patient 3 were siblings， they were both homozygotes：a A-to-G transition at nucleotide 1157 in exon 8. The heterozygosity was demonstrated in their mother. Both her parents had normal phenotype. Conclusion Two different mutations were examined in these 4 Chinese patients， and the SLS cases were confirmed by ALDH3A2 mutation analysis.

Key words: Sjö, gren-Larsson syndrome；neurocutaneous syndrome；ALDH3A2 gene；mutation analysis

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