<i>IARS1</i>单杂合突变相关生长迟缓和肝病1例报告

李阳; 毛迪; 魏丽亚; 巩纯秀

doi:10.12449/JCH250419

IARS1单杂合突变相关生长迟缓和肝病1例报告

DOI: 10.12449/JCH250419

国家儿童医学中心，首都医科大学附属北京儿童医院内分泌遗传代谢科，北京 100045

伦理学声明：本例报告已获得患儿家属知情同意。

利益冲突声明：本文不存在任何利益冲突。

作者贡献声明：李阳负责课题设计，资料收集和分析，撰写和修改论文；毛迪负责资料分析和修改论文；魏丽亚负责资料收集；巩纯秀负责拟定写作思路，指导撰写文章并最后定稿。

详细信息

通信作者:
巩纯秀， chunxiugong@163.com （ORCID： 0000-0002-1262-7383）

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出版历程
- 收稿日期: 2024-10-02
- 录用日期: 2024-11-25
- 出版日期: 2025-04-25

Growth retardation and hepatopathy associated with single heterozygous mutations in the IARS1 gene： A case report

Department of Endocrinology，Genetics，Metabolism and Adolescent Medicine，National Center for Children’s Health，Beijing Children’s Hospital，Capital Medical University，Beijing 100045，China

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Corresponding author: GONG Chunxiu， chunxiugong@163.com （ORCID： 0000-0002-1262-7383）

摘要

摘要: IARS1基因变异罕见，经检索，仅有10例详尽临床及遗传数据的病例被文献报道。本文报道了1例IARS1单杂合变异相关的生长迟缓和肝病，并总结IARS1变异导致生长迟缓、智力障碍、肌张力低下和肝病的临床及遗传学特点，扩展了生长迟缓、智力障碍、肌张力低下和肝病的遗传谱。
- 移码突变 /
- 肝疾病 /
- 儿童
Abstract: Mutations in the IARS1 gene are rare in clinical practice， and up to now， only ten cases with detailed clinical and genetic data have been recorded in the literature. This article reports a case of growth retardation， intellectual developmental disorder， hypotonia， and hepatopathy （GRIDHH） associated with single heterozygous mutations in the IARS1 gene and summarizes the clinical and genetic features of GRIDHH， thereby expanding the genetic spectrum of GRIDHH.
- Frameshift Mutation /
- Liver Diseases /
- Child

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注： a，患儿IARS1基因c.2354del杂合变异，父亲杂合变异，母亲该位点无变异；b，患儿APOB基因c.2963A>C杂合变异，父亲该位点无变异，母亲杂合变异；c，变异蛋白与野生型蛋白三维结构

图 1 患儿突变位点Sanger测序及生物信息学分析

Figure 1. Sanger sequencing and bioinformatics analysis of the mutation site in the patient

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注： a，4岁5个月面容；b，6岁2个月面容；c，4岁5个月骨龄；d，6岁2个月骨龄；e，GH治疗生长曲线。

图 2 患儿临床特征

Figure 2. Clinical features of the patient

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表 1 患儿GH治疗前后体格生长和生化指标变化

Table 1. Changes in physical growth and biochemical parameters before and after GH treatment in patient

年龄	身高（cm）	HAZ	体质量（kg）	WAZ	ALT （U/L）	AST （U/L）	TC （mmol/L）	LDL-C （mmol/L）	IGF-1 （ng/mL）	IGFBP3 （μg/mL）
6个月	59.0	-3.53	6.4	-1.81
1岁4个月	69.0	-3.94	8.1	-2.32					44.0
4岁5个月	94.0	-3.15	13.5	-2.09
4岁7个月	94.0	-3.38	13.6	-2.18	35.6	46.5	6.57		31.8	2.33
4岁11个月	97.9	-2.88	14.3	-2.03	48.9	38.9			38.4	2.17
5岁2个月	101.5	-2.35	15.4	-1.60	53.2	49.2	5.75	3.41	69.7	4.62
5岁5个月	104.2	-2.07	15.4	-1.82	54.0	56.0	4.44	2.81	48.3	3.31
5岁8个月	106.5	-1.87	17.2	-1.10	53.9	56.9	4.98	3.12	62.1	3.23
6岁2个月	110.7	-1.53	18.0	-1.12	39.3	39.7	4.61	2.55	114.0	4.59
注：HAZ，身高标准差分值；WAZ，体质量标准差分值。

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参考文献(12)

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