摘要
目的探讨一个Menkes病(MD)家系的临床及基因突变特点。方法收集2例MD患儿的临床、头颅磁共振(MRI)、视频脑电图(VEEG)及基因等资料,回顾文献,总结分析MD的特点。结果2例患儿均有皮肤白皙、毛发稀疏卷曲、运动智力发育落后、癫痫等表现。血清铜蓝蛋白明显低于正常值,头颅磁共振显示大脑迂曲血管。全外显子测序ATP7A基因异常,例1存在c.2249dupT(p.V751Cfs*21)突变,受检人父亲该位点无变异,受检人母亲该位点杂合变异。例2存在c.2250dupT(p.V751Cfs*21)半合子突变,受检人父亲该位点无变异,受检人母亲该位点杂合变异。结论MD主要临床表现为皮肤白皙、毛发稀疏卷曲、运动智力发育落后、癫痫等,血清铜蓝蛋白低和颅内迂曲血管为MD的特别表现。新报告了一个ATP7A基因突变位点,丰富了我国ATP7A基因基因变异谱。
Objective To investigate the clinical and gene mutation characteristics of a family with Menkes disease(MD).Methods The clinical symptoms,magnetic resonance imaging of the brain,vidio electroencephalogram and gene data of 2 children with MD were collected,and the characteristics of MD were summarized and analyzed by reviewing the literature.Results Both children had fair skin,sparse and curly hair,backward motor intelligence development,and epilepsy.Serum ceruloplasmin was significantly lower than normal,and cranial MRI showed tortuous blood vessels in the brain.All-exon sequencing of the ATP7A gene is abnormal.Case 1 has c.2249dupT(p.V751Cfs*21)mutation.The check point of the subject's father has no mutation,and the check point of the subject's mother has no mutation.Case 2 has c.2250dupT(p.V751Cfs*21)half-zygote mutation.The check point of the subject's father has no mutation,and the check point of the subject's mother has no mutation.Conclusion The main clinical manifestations of the MD are fair skin,sparse and curly hair,backward motor intelligence development,and epilepsy.Low serum ceruloplasmin and intracranial tortuous vessels are special manifestations of MD.A new ATP7A gene mutation site is reported,which has enriched the gene variation spectrum of ATP7A gene in China.
作者
崔晓普
郭四仙
张会欣
张瑜
田红欣
王丽辉
Cui Xiaopu;Guo Sixian;Zhang Huixin;Zhang Yu;Tian Hongxin;Wang Lihui(Department of Neurology,Hebei Children's Hospital,Shijiazhuang 050031,China)
出处
《脑与神经疾病杂志》
2025年第8期521-526,共6页
Journal of Brain and Nervous Diseases
基金
河北省卫生健康委科研基金项目(20220744)。
