Department of Rehabilitation, Wuhu No.1 People's Hospotal of Anhui Province, Wuhu 241060.
Yi Chuan. 2023 Jul 20;45(7):617-623. doi: 10.16288/j.yczz.23-034.
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 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 experimental results show that the expression of the mutant protein decrease. This study enriches the gene mutation spectrum, and improves the clinicians' diagnostic awareness of INAD.
婴儿型神经轴索性营养不良（INAD）是一种罕见的常染色体隐性神经退行性疾病，其特征为早期肌张力低下，随后出现精神运动发育倒退、锥体束征阳性和痉挛性四肢瘫痪。本报告描述了一位中国 INAD 患者，其表现为肌张力低下、运动和语言发育迟缓，经康复训练后有所改善。基因检测显示，患者携带复合杂合基因变异，杂合 c.496dupG(p.Glu166fsTer32)变异来自其父亲，杂合 c.2189T>G(p.Met730Arg)变异来自其母亲。p.Met730Arg 是一种新的变异。蛋白结构预测提示突变蛋白的结构稳定性可能发生改变，实验结果显示突变蛋白的表达减少。本研究丰富了基因变异谱，提高了临床医生对 INAD 的诊断意识。
