摘要
Christianson综合征是一种由SLC9A6基因突变的罕见的X连锁疾病。临床表现为男性发育迟缓、语言障碍、癫痫发作、智力障碍、共济失调、小头畸形等。现报道2例男性Christianson综合征患儿:先证者1岁11个月,临床表现为小头畸形、全面发育迟缓及癫痫发作,脑电图提示中央中线区棘慢波发放,全外显子测序检测到SLC9A6基因chrX:135084373处出现突变[c.803+1(IVS6)G>A];先证者之兄4岁8个月,临床表现类似,脑电图提示双侧Rolandic区棘波、棘慢波、多棘慢波发放,磁共振成像提示存在脑萎缩,基因验证结果与先证者一致。SLC9A6基因c.803+1(IVS6)G>A剪切突变为该家系致病突变。
Christianson syndrome is a rare X-linked disease caused by mutations in the SLC9A6 gene.The clinical manifestations are male developmental delay,language disorder,seizures,mental retardation,ataxia,microcephaly and so on.Two cases of male children with Christianson syndrome were reported.The proband was 1 year and 11 months old.Clinical manifestations include microcephaly,global developmental delay,and seizures.The electroencephalogram showed that the central midline region of spikes and slow waves were emitted,and all exons sequencing detected a mutation in the SLC9A6 gene chrX:135084373[c.803+1(IVS6)G>A].The proband′s brother was 4 years and 8 months old.The clinical manifestations were similar.The electroencephalogram showed spikes and spines in the Rolandic area on both sides.Slow waves and spiny slow waves were emitted.Magnetic resonance imaging suggested brain atrophy.The genetic verification results were consistent with the proband.The SLC9A6 gene c.803+1(IVS6)G>A splicing mutation was a pathogenic mutation in this family.
作者
宋从磊
童文佳
姜婷
杨广娥
周水珍
杨斌
Song Conglei;Tong Wenjia;Jiang Ting;Yang Guang'e;Zhou Shuizhen;Yang Bin(Department of Neurology,Anhui Provincial Children′s Hospital,Hefei 230051,China;Department of Pediatric Intensive Care Unit,Anhui Provincial Children′s Hospital,Hefei 230051,China;Department of Neurology,Pediatric Hospital Affiliated to Fudan University,Shanghai 201102,China)
出处
《中华神经科杂志》
CAS
CSCD
北大核心
2022年第10期1143-1147,共5页
Chinese Journal of Neurology
基金
安徽省儿童医院中青年优秀科技人才培养项目(20etyy009)。
