中国实用儿科杂志

中国实用儿科杂志 ›› 2024, Vol. 39 ›› Issue (7): 555-560.DOI: 10.19538/j.ek2024070615

• 病例报告 • 上一篇    

巨轴索神经病1例临床表现及基因突变分析并文献复习

  

  1. 1.昆明医科大学，云南  昆明  650500；2.中国医学科学院  北京协和医学院医学生物学研究所医学遗传学研究室，云南  昆明  650118；3.昆明市儿童医院癫痫中心，云南  昆明  650034 王丽，段丽芬为共同第一作者，对本文有同等贡献
  • 出版日期:2024-07-06 发布日期:2024-09-09
  • 通讯作者: 杨昭庆，电子信箱：zyang@imbcams.com.cn
  • 基金资助:
    云南省高层次卫生健康人才项目（L-2018003）；昆明市卫生科技人才培养项目暨“十百千”工程培养计划［2021-SW（省）-23］；春城青年拔尖人才专项（C202214006）

Clinical manifestations and gene mutation analysis of a patient with giant axonal neuropathy and literature review

  1. *Kunming Medical University，Kunming  650500，China
  • Online:2024-07-06 Published:2024-09-09

摘要： 回顾性分析2022-11-05昆明市儿童医院癫痫中心收治的1例染色体16q23.2区域部分纯合缺失巨轴索神经病（GAN）患者的临床资料及其他辅助检查资料，对患儿及其父母进行基因检测，总结已报道的中国GAN患者的临床表型及基因突变特征，为巨轴索神经病的疾病诊断以及遗传咨询提供参考依据结果发现患儿男性，7岁6月龄，步态异常呈“鸭步”，曾有癫痫发作等情况。基因检测发现患儿16q23.2区域发生>115.8 kb的纯合性片段缺失，基因片段检测提示该缺失分别来自患儿父亲和母亲，该患儿诊断为巨轴索神经病。结合12例已报道具有GAN致病基因突变中国患儿的文献复习发现，患儿的临床表现均以儿童早期下肢无力，步态异常，行走障碍为首发症状，发现平均发病年龄为3岁，除本研究患者为基因片段缺失致病外，其余患者均为点突变，广泛分布于GAN基因的3个结构域。由此得出，GAN基因片段缺失为患儿巨轴索神经病的致病原因，研究进一步丰富了GAN的基因突变谱，并归纳分析了国内GAN患者的临床表型与基因突变特征，为GAN的临床诊断和遗传咨询提供参考依据。

关键词: 巨轴索神经病, GAN基因, 纯合缺失, 癫痫

Abstract: The analysis revealed the clinical phenotypic and genetic characteristics of a patient with Giant axonal neuropathy，combined with the clinical phenotype and gene mutation characteristics of GAN patients reported in China，we provided a reference for the diagnosis of GAN and genetic counseling.Retrospectively analyzed the clinical data and other auxiliary inspection materials of a GAN patient with chromosomal 16q23.2 partial deletions，and gene detection is performed on the child and his parents.The clinical data and pathogenic mutations of GAN patients in China were summarized in this study based on related databases.The proband is a seven years and six months old boy with duck walking，and a history of seizures.Gene detection shown that the chromosome 16q23.2 region was partially deleted，Combined with clinical manifestations，the child was diagnosed with GAN.The summary of 12 Chinese GAN patients' clinical manifestations revealed that the average onset age is three years old，and all of them showed symptoms with unexpected lower limbs，gait abnormalities，and walking obstacles in their early childhood.Our patient is deleted by a gene fragment，and other are point mutation.The location of the mutation is widely distributed in three domains of GAN genes. Partial deletion of GAN gene leads to Giant axonal neuropathy in this case.This study further complements the genetic mutant and summarizes the clinical phenotypes for GAN patients in China，and provide a reference for GAN clinical diagnosis and genetic counseling.

Key words: giant axonal neuropathy, GAN；GAN gene；hydrographic deletion；epilepsy