NKX6-2基因纯合突变致痉挛型共济失调8型1例报告并文献复习  

Spastic ataxia type 8 with a homozygous mutation of the NKX6-2 gene:a case report and literature review

作　　者：李碧云 肖慧媚[1] 裴铮[1] 常燕群[1] 刘芳 王林淦 Li Biyun;Xiao Huimei;Pei Zheng;Chang Yanqun;Liu Fang;Wang Lingan(Department of Rehabilitation,Guangdong Women and Children Hospital,Guangzhou 511400,China)

机构地区：[1]广东省妇幼保健院康复医学科,广州511400

出　　处：《中华实用儿科临床杂志》2022年第6期456-459,共4页Chinese Journal of Applied Clinical Pediatrics

摘　　要：NKX6-2编码一种涉及少突胶质细胞发生和发育的转录因子。近年来,NKX6-2基因突变被证实与一种严重的低髓鞘化性脑白质营养不良——痉挛型共济失调8型(SPAX8)有关。截至2020年3月24日,已有36例共涉及11种NKX6-2基因突变类型的SPAX8病例报道,但尚未见中国病例。本研究回顾性报道2019年10月广东省妇幼保健院康复医学科收治的第1例SPAX8中国患儿(男,2岁7个月),其携带一种新的纯合NKX6-2移码突变c.234dup(p.Leu79Alafs*?),临床表现为严重的全面发育迟缓、四肢痉挛、眼球震颤、听力障碍和一些尚未见报道的眼部表型,如倒睫、双眼屈光不正和右眼视网膜变性。本研究同时报道了与先证者有类似症状但未进行基因检测的姐姐表型,并进行相关文献复习。本例报道扩展了SPAX8的基因型和表型谱。NKX6-2 encodes a transcription factor involving the genesis and development of oligodendrocytes.Mutations in the NKX6-2 gene are related to a severe variant of hypomyelinating leukodystrophy,namely the NKX6-2-related spastic ataxia type 8(SPAX8).As of March 24,2020,there are 36 cases of SPAX8 involving 11 mutations of the NKX6-2 gene,which has not been reported in Chinese population.This article for the first time reported a 31-month-old Chinese boy diagnosed as SPAX8 caused by a novel mutation of the NKX6-2 gene at c.234dup(p.Leu79Alafs*?)admitted to the Department of Rehabilitation,Guangdong Women and Children Hospital in October 2019 retrospectively.He presented severe global psychomotor delay,spasticity,nystagmus,hearing impairment and trichiasis,ametropia of both eyes,and retinal degeneration of the right eye,which have not been reported in previous cases.His elder sister presented relevant manifestations,but did not perform the genetic testing.Through this case report and literature review,the genotype and phenotype of SPAX8 were expanded.

关 键 词：痉挛型共济失调8型 NKX6-2基因 低髓鞘化性脑白质营养不良 突变 

分 类 号：R744.7[医药卫生—神经病学与精神病学]