ELOVL1基因变异致IKSHD 1例临床及基因分析  

Clinical and genetic analysis of a patient with IKSHD caused by ELOVL1 gene mutation

作　　者：杨磊 张广宇[1] 陈功勋 李三松 王明梅[1] 朱登纳[1] YANG Lei;ZHANG Guangyu;CHEN Gongxun;LI Sansong;WANG Mingmei;ZHU Dengna(Department of Children Rehabilitation,The Third Affiliated Hospital of Zhengzhou University,Zhengzhou 450052,Henan,China)

机构地区：[1]郑州大学第三附属医院儿童康复科,河南郑州450052

出　　处：《临床儿科杂志》2021年第11期847-850,共4页Journal of Clinical Pediatrics

基　　金：河南省医学科技攻关联合共建项目(No.2018020182);河南省医学科技攻关省部共建项目(No.SBGJ2018047)。

摘　　要：目的探讨鱼鳞病样角化症、痉挛、髓鞘形成障碍和面部畸形(IKSHD)的临床特点及其致病基因。方法回顾分析1例IKSHD患儿的临床资料,并复习相关文献。结果患儿男性,1岁7个月,肘、膝、踝关节及小腿背侧皮肤鱼鳞病样角化症,痉挛性截瘫,眼球震颤伴斜视,面部畸形,听力障碍。头颅磁共振示脑白质髓鞘化障碍。全外显子测序结果显示患儿ELOVL1基因c.464G>C杂合突变,家系验证患儿父母均为野生型,该突变位点未见报道。根据ACMG指南评级为可能致病变异,结合患儿临床表现诊断为IKSHD。结论确诊患儿为IKSHD,新发现c.464G>C错义突变位点,基因检测有助于临床确诊。Objective To investigate the clinical characteristics and pathogenic gene of a patient diagnosed with ichthyotic keratoderma,spasticity,hypomyelination and dysmorphic facies(IKSHD).Method Clinical data of a patient with IKSHD was retrospectively analyzed,and related literatures were reviewed.Results The 1 year and 7 months old boy displayed ichthyoid keratosis of the skin of the elbow,knee,ankle and the dorsal side of the leg,spastic paraplegia,nystagmus with strabismus,facial deformity and hearing impairment.Cranial MRI showed hypomyelination.The gene sequencing identified a de novo heterozygous mutation of c.464G>C in ELOVL1 gene which has not been reported.According to ACMG rating,this variant was classified with likely pathogenic.Combined with the clinical manifestations and genetic results,diagnosis of IKSHD was arrived.Conclusion Gene sequencing is helpful for the diagnosis of IKSHD and the discovery of novel missense mutation(c.464G>C).

关 键 词：鱼鳞病样角化症 痉挛 髓鞘形成障碍 ELOVL1基因 

分 类 号：R725.9[医药卫生—儿科]