一例结节性硬化症新生儿的TSC2基因变异分析  

Analysis of TSC2 gene variant in a neonate with tuberous sclerosis complex

作　　者：詹灿阳[1] 陈理华[1] Zhan Canyang;Chen Lihua(Department of Neonatology,Chidren′s Hospital Affiliated to Zhejiang University School of Medicine,National Clinical Research Center for Child Health,Hangzhou,Zhejiang 310052,China)

机构地区：[1]浙江大学医学院附属儿童医院新生儿科,国家儿童健康与疾病临床医学研究中心,杭州310052

出　　处：《中华医学遗传学杂志》2022年第12期1390-1392,共3页Chinese Journal of Medical Genetics

摘　　要：目的:分析一例结节性硬化症(tuberous sclerosis complex,TSC)新生儿的临床特点及遗传学特征。方法:采集1例以发色黄为首发表现的新生儿及其父母的外周血样,提取DNA进行基因高通量测序分析。结果:基因测序显示患儿TSC2基因第33外显子存在c.3914del(p.P1305Rfs*20)杂合变异,该变异为移码变异,可导致多肽链合成提前终止。结论:本例TSC新生儿以发色黄为首发表现,既往未见报道。TSC2基因第33外显子c.3914del(p.P1305Rfs*20)杂合变异可能为该患儿的致病原因。上述发现丰富了TSC2基因的变异谱。Objective To explore the clinical characteristics and genetic variant in a neonate with tuberous sclerosis complex(TSC).Methods Clinical data of the neonate was collected.Genomic DNA was extracted from peripheral blood samples of the child and his parents and subjected to next-generation sequencing(NGS).Results The child was noted to have yellowish hair upon birth.NGS revealed that he has harbored a heterozygous c.3914del(p.P1305Rfs*20)frameshifting variant of the TSC2 gene.The variant has probably caused premature termination of translation,resulting in a truncated protein.Conclusion Yellowish hair has rarely been described as the first manifestation of TSC.The c.3914del(p.P1305Rfs*20)variant of the TSC2 gene probably underlay the TSC in this patient.

关 键 词：结节性硬化症 TSC2基因 基因变异 

分 类 号：R722.1[医药卫生—儿科]