一个白质消融性白质脑病家系新基因突变及临床表型研究  

Genotype-phenotype Analysis in a Family of Leukoencephalopathy With Vanishing White Matter

作　　者：班婷婷 林彩梅 张琰 郑小兰 吴玲玲 谢昆 魏春苗 苏惠红 BAN Ting-Ting;LIN Cai-Mei;ZHANG Yan;ZHENG Xiao-Lan;WU Ling-Ling;XIE Kun;WEI Chun-Miao;SU Hui-Hong(Children’s Hospital of Fudan University at Xiamen,Xiamen 361006,China)

机构地区：[1]复旦儿科厦门医院(厦门市儿童医院),厦门361006

出　　处：《生物化学与生物物理进展》2022年第11期2199-2203,共5页Progress In Biochemistry and Biophysics

摘　　要：目的探讨白质消融性脑病的临床及影像学特点。方法回顾分析一例白质消融性白质脑病患儿家系的临床资料,并复习相关文献。结果先证者1,女,4岁10个月,因步态异常起病。头颅磁共振成像(MRI)示白质异常,且弥漫对称。基因检测发现患儿EIF2B4基因存在2个错义突变,均位于外显子13,分别为C.1544 T→A(p.Leu515Gln)和C.1445 G→T(p.Arg 482Leu)杂合变异,国内外均未报道,为新发现的基因变异。结合国外临床诊断标准及基因分析结果确诊为白质消融性白质脑病。另一患儿为其同卵妹妹,与其发病时间、发病表现、头颅MRI及基因检测结果均大致相同,但随访1年发现先证者1退步更快。结论发现2个新的EIF2B4基因错义突变,基因分析有助明确诊断白质消融性白质脑病。Objective To analyze the clinical features and early diagnosis of leukoencephalopathy with vanishing white matter(VWM).Methods The clinical material and gene sequencing report of one faimily with VWM were retrospectively analyzed,and relevant literatures were reviewed.Results Patient 1,female,4 years and 10 months old,developed the disease due to abnormal gait.Magnetic resonance imaging(MRI)of the brain showed white matter abnormality with diffuse symmetry.Gene detection revealed two missense mutations in EIF2B4 gene,both located in exon 13,respectively C.1544 T→A and C.1445 G→T heterozygous variation,which has not been reported.The other child was her identical sister,whose onset time,manifestations,brain MRI and gene test results were roughly the same.However,after 1-year follow-up,we found that patient 1 degraded faster.Conclusion We found two novel missense mutations C.1544 T→A and C.1445 G→T.Early genetic analysis is suggested to make a definite diagnosis for leukoencephalopathy with VWM.

关 键 词：白质消融性白质脑病 EIF2B4 基因突变 

分 类 号：R446.9[医药卫生—诊断学] R725[医药卫生—临床医学]