Spastic ataxia type 8 with a homozygous mutation of the NKX6-2 gene: a case report and literature review
10.3760/cma.j.cn101070-20201010-01598
- VernacularTitle: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
- Author:
Biyun LI
1
;
Huimei XIAO
;
Zheng PEI
;
Yanqun CHANG
;
Fang LIU
;
Lingan WANG
Author Information
1. 广东省妇幼保健院康复医学科，广州 511400
- Keywords:
Spastic ataxia type 8;
NKX6-2 gene;
Hypomyelinating leukodystrophy;
Mutation
- From:
Chinese Journal of Applied Clinical Pediatrics
2022;37(6):456-459
- CountryChina
- Language:Chinese
-
Abstract:
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.
