首例非白人婴儿肝衰竭综合征1型患儿临床特点和分子诊断研究
婴儿肝衰竭综合征1型（ILFS1）是一种由胞质亮氨酰-t RNA合成酶基因（LARS）突变所导致的常染色体隐性遗传病。本研究报道首例非白人ILFS1患者的临床特点和分子诊断经过,为ILFS1的诊治提供参考。患者为2岁9个月男孩,因发现肝脾肿大1年余就诊。1岁5个月时发现肝脾大,实验室检查发现丙氨酸氨基转移酶和门冬氨酸氨基转移酶偏高、低蛋白血症、凝血功能异常和贫血,肝脏病理提示肝硬化和脂肪肝;SLC25A13基因高频突变筛查和一代测序分析仅检测到一个父源性突变c.1658G〉A,cDNA克隆分析也未发现母源性SLC25A13等位基因异常转录子;代谢性肝病相关基因外显子组捕获二代测序在患儿LARS...
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| Published in: | Zhongguo dang dai er ke za zhi Vol. 19; no. 8; pp. 913 - 920 |
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| Main Author: | |
| Format: | Journal Article |
| Language: | Chinese English |
| Published: |
中国长沙
中国当代儿科杂志编辑部
25-08-2017
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| Subjects: | |
| Online Access: | Get full text |
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| Summary: | 婴儿肝衰竭综合征1型（ILFS1）是一种由胞质亮氨酰-t RNA合成酶基因（LARS）突变所导致的常染色体隐性遗传病。本研究报道首例非白人ILFS1患者的临床特点和分子诊断经过,为ILFS1的诊治提供参考。患者为2岁9个月男孩,因发现肝脾肿大1年余就诊。1岁5个月时发现肝脾大,实验室检查发现丙氨酸氨基转移酶和门冬氨酸氨基转移酶偏高、低蛋白血症、凝血功能异常和贫血,肝脏病理提示肝硬化和脂肪肝;SLC25A13基因高频突变筛查和一代测序分析仅检测到一个父源性突变c.1658G〉A,cDNA克隆分析也未发现母源性SLC25A13等位基因异常转录子;代谢性肝病相关基因外显子组捕获二代测序在患儿LARS基因检出父源性突变c.2133_2135del（p.L712del）和母源性突变c.1183G〉A（p.D395N）,经一代测序验证,最终确诊为ILFS1。目前随访至4岁,肝功能正常,无贫血,仍有低蛋白血症。 |
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| Bibliography: | Infantile liver failure syndrome type 1（ILFS1） is a Mendelian disease due to biallelic mutations in the cytoplasmic leucyl-t RNA synthetase gene（LARS）.This study aimed to report the clinical and molecular features of the first non-caucasian ILFS1 patient,providing reliable evidences for the definite diagnosis of ILFS1.The 2 years and 9 months old male patient was referred to the hospital with hepatosplenomegaly over 1 year.At age 17 months,he was found to have hepatosplenomegaly and anemia.Since then,he had been managed in different hospitals.The laboratory tests showed liver dysfunction,hypoproteinemia,coagulopathy and anemia,along with histologically-confirmed cirrhosis and fatty liver; however,the etiology remained undetermined.The subsequent SLC25A13 mutation analysis by means of prevalent mutation screening and Sanger sequencing only revealed a paternally-inherited mutation c.1658GA,and no aberrant SLC25A13 transcripts could be detected from the maternal allele on cDNA cloning analysis,ruling out the pos |
| ISSN: | 1008-8830 |
| DOI: | 10.7499/j.issn.1008-8830.2017.08.013 |