钱学森 友来
临床儿科杂志 第 36 卷第 11 期 2018 年 11 月 J Clin Pediatr Vol.36 No.11 Nov. 2018
· 820 ·
doi:10.3969/j.issn.1000-3606.2018.11.004
通信作者：江伟 ：18745297@qq
2例神经退行性变伴脑铁沉积症5型患儿临床及遗传学分析 赵 敏 冯 英 陈玉霞 刘 玲 黄琴蓉 肖 农 江 伟重庆医科大学附属儿童医院康复科 儿童发育疾病研究教育部重点实验室
儿科学重庆市重点实验室
（重庆 400014）摘要： 目的 探讨神经退行性变伴脑铁沉积症5型（NBIA 5）患儿的临床及遗传学特征。方法 分析2例NBIA 5患儿临床表现及影像学结果，并用全外显子检测技术对患儿及家系进行WDR45基因测序。 结果 患儿分别为10个月男性和3岁10个月女性，均有全面性发育迟缓。1例有疑似癫痫发作史，MRI 提示脑实质进行性萎缩；另1例有癫痫病史，MRI 提示双侧苍白球T 2WI 及T 2Flair 上信号稍高。基因测序显示均存在WDR45基因突变，1例为未见报道的第6外显子c.276-c 277in羟氨苄青霉素胶囊
sC 移码突变，另1例为已有报道的第3外显子c.19C>T 提前终止；2例患儿父母均为WDR45野生型。结论 WDR45全外显子基因测序结合病史及MRI 可诊断NBIA 5。
关键词： 神经退行性变伴脑铁沉积症5型; WDR45基因; 基因突变; 全外显子测序; X 连锁显性遗传
Analysis of clinical and pedigree genetics in two cases with neurodegeneration with brain iron accumulation 5 ZHAO Min, FENG Ying, CHEN Yuxia, LIU Ling, HUANG Qinrong, XIAO Nong, JIANG Wei (Department of Children Rehabilitation, Children’s Hospital of Chongqing Medical University ，Ministry of Education Key Laboratory of Child Development and Disorders, Critical Disorders Key Laboratory of Developmental Diseases in Childhood Ministry of Education, Chongqing 400014, China)
中国统计年鉴2008Abstract: Objective To investigate the clinical characteristics and pedigree genetics of neurodegeneration with brain iron accumulation 5. Methods Clinical features and imaging findings of two patients with neurodegeneration with brain iron accumulation 5 were analyzed, and whole-exome sequencing was used to identify WDR45 gene mutations. Results A ten month old male infant and a three-year-old female child had history of comprehensive development retardation, the b
oy had a history of suspected seizures, magnetic resonance imaging (MRI) showed progressive brain atrophy; and the girl had a history of epilepsy, cranial MRI showed slightly hyperintense on T2-weighted images and T2 Flair in the globus pallidus. Whole-exome sequencing identified a novel frameshift mutation c.276-c277insC in exon 6 of WDR45 in the boy and a reported mutation c.19C> Tin in the girl, which were not found in both parents. Conclusion The WDR45 gene sequencing combined with medical history and cranial MRI can be used to diagnose neurodegeneration with brain iron accumulation 5 .
Key words: neurodegeneration with brain iron accumulation 5; WDR45 gene; gene mutation; whole exome sequencing; X-linked dominant inheritance
神经退行性变伴脑铁沉积症5型
（neurodegeneration with brain iron accumulation 5，NBIA5，OMIM 300894）又称β螺旋蛋白相关性神经变性病
（beta-propeller protein associated neurodegeneration ，BPAN ）变形镁合金
[1]
，
因其临床表现分为儿童期静止性全面发育迟缓、成人期进展为锥体外系症状的双相临床进程，也被称为儿童期静态性脑病成年期神经变性病多媒体网络教学
（static encephalopathy of childhood with neurodegeneration in adulthood ，SENDA ），其致病基因为X 染体长臂1区1带2亚
小文件存储单位的WDR45，与自噬有关。NBIA 5的遗传方式为X 连锁的显性遗传，女性患者多见，发病率目前认为<1/100万[2]，全球目前报道不到100例患者。头颅MRI 显示以基底节区为主的异常铁沉积，主要表现为早期黑质在T 1像呈现高信号伴或不伴中央低信号带，T 2像呈低信号，可累及苍白球、小脑，并可出现脑萎缩[1]。近期报道，除上述表现外患者可出现海马畸 形[3]。目前NBIA 5的发病机制尚未明确，缺乏有效手段，主要以对症为主同时预防并发症。儿童
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