一例婴儿神经轴索营养不良的诊疗与基因检测分析

doi:10.16288/j.yczz.23-034

遗传 ›› 2023, Vol. 45 ›› Issue (7): 617-623.doi: 10.16288/j.yczz.23-034

一例婴儿神经轴索营养不良的诊疗与基因检测分析

宫为大, 陶钢, 赵甜甜, 杨悦, 纪红

安徽省芜湖市第一人民医院康复科，芜湖 241060

出版日期:2023-07-20 发布日期:2023-05-04

Diagnosis, treatment and genetic analysis of a child with infantile neuroaxonal dystrophy

Weida Gong, Gang Tao, Tiantian Zhao, Yue Yang, Hong Ji

Department of Rehabilitation, Wuhu No.1 People’s Hospotal of Anhui Province, Wuhu 241060

Online:2023-07-20 Published:2023-05-04

摘要/Abstract

摘要：

婴儿神经轴索营养不良(infantile neuroaxonal dystrophy，INAD)是一种罕见的常染色体隐性遗传神经退行性疾病，主要临床表现为早期肌张力降低，可快速进展为精神运动发育倒退、锥体束征阳性及痉挛型四肢瘫痪。本文报道1例中国INAD患儿，该患儿表现为肌张力降低，运动及语言发育迟缓，康复训练后得到改善。基因检测结果提示该患儿PLA2G6基因发生复合杂合变异，分别来自父亲携带的杂合子变异c.496dupG (p.Glu166fsTer32)及其母亲携带的杂合子变异c.2189T>G (p.Met730Arg)。变异p.Met730Arg尚未被报道，蛋白结构预测该变异蛋白结构稳定性可能发生改变，体外检测结果表明该变异蛋白表达量显著降低。本研究进一步丰富了PLA2G6基因变异谱，有助于提升临床医生对INAD疾病的诊断意识。

关键词: 婴儿神经轴索营养不良（INAD）, PLA2G6

Abstract:

Infantile neuroaxonal dystrophy (INAD) is a rare autosomal recessive neurodegenerative disease characterized by early hypotonia, and rapid progression to psychomotor development regression, pyramidal tract positivity, and spastic quadriplegia. In this report, we describe a Chinese patient with INAD who presented with hypotonia, delayed motor and language development, and subsequently improved with rehabilitation training. Genetic testing revealed that the patient had compound heterozygous PLA2G6 gene variants, with the heterozygous c.496dupG (p.Glu166fsTer32) variant inherited from her father and the heterozygous c.2189T>G (p.Met730Arg) variant inherited from her mother. The p.Met730Arg was a novel variant. The protein structure predicts that the structural stability of the mutant protein may change, and the in vivo experimental results show that the expression of the mutant protein decrease. This study enriches the PLA2G6 gene mutation spectrum, and improves the clinicians’ diagnostic awareness of INAD.

Key words: infantile neuroaxonal dystrophy (INAD), PLA2G6

宫为大, 陶钢, 赵甜甜, 杨悦, 纪红. 一例婴儿神经轴索营养不良的诊疗与基因检测分析[J]. 遗传, 2023, 45(7): 617-623.

Weida Gong, Gang Tao, Tiantian Zhao, Yue Yang, Hong Ji. Diagnosis, treatment and genetic analysis of a child with infantile neuroaxonal dystrophy[J]. Hereditas(Beijing), 2023, 45(7): 617-623.

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评估项目	康复训练前发育评估	康复训练后发育评估
适应性	11.78月，DQ：62 (轻度发育迟缓)	13.21月，DQ：66 (轻度发育迟缓)
大运动	12.72月，DQ：67 (轻度发育迟缓)	15.42月，DQ：77 (边缘状态)
精细运动	11.76月, DQ：62 (边缘状态)	15.32月, DQ：77 (边缘状态)
个人社交	16.26月, DQ：85 (轻度发育迟缓)	17.12月, DQ：86 (正常)
语言能力	13.41月，DQ：65 (轻度发育迟缓)	17.53月，DQ：88 (正常)

评估项目	康复训练前发育评估	康复训练后发育评估
总分	63.73%	70.24%
卧位和翻身得分	51/51，100%	51/51，100%
坐位得分	53/60，88.33%	59/60，98.33%
爬和跪得分	27/42，64.29%	27/42，64.29%
站立得分	16/39，41.03%	21/39，53.85%
走跑跳得分	18/72，25%	25/72，34.72%

一例婴儿神经轴索营养不良的诊疗与基因检测分析

Diagnosis, treatment and genetic analysis of a child with infantile neuroaxonal dystrophy

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