PRMT7基因突变相关1例癫痫患儿病例报道  

PRMT7 gene mutation associated with epilepsy:A case report

作　　者：阎丹妮 刘学芳[1] 刘康[1] 李富威 孙素真[1] YAN Danni;LIU Xuefang;LIU Kang;LI Fuwei;SUN Suzhen(Hebei Children's Hospital Affiliated to Hebei Medical University,the Key Laboratory of Pediatric Epilepsy and Neuropathy of Hebei Province,Shijiazhuang,Hebei,050000,China;Chigene(Beijing)Translational Medical Research Center Co.,Ltd.,Beijing 10llll,China)

机构地区：[1]河北医科大学附属河北省儿童医院/河北省小儿癫痫与神经疾病重点实验室,河北石家庄050000 [2]北京智因东方转化医学研究中心有限公司,北京101111

出　　处：《中国优生与遗传杂志》2023年第9期1878-1884,共7页Chinese Journal of Birth Health & Heredity

基　　金：河北省重点研发计划(22377756D)。

摘　　要：目的 身材矮小、短指、智力发育障碍和癫痫发作(SBIDDS)是一种由PRMT7基因突变导致的常染色体隐性疾病。本文探讨了PRMT7基因突变患儿的临床特征和基因突变特点。方法 通过全外显子组测序在1例患者中检测到PRMT7基因变异,并对该家族的Sanger测序进行了位点验证。通过查阅文献,回顾并总结了与PRMT7基因突变相关的表型谱,总结了SBIDDS的临床特征。结果 本文报道了1例中国的难治性癫痫、智力发育落后、身材矮小、面容畸形、短指以及颅脑外形不对称的患儿。基因分析结果表明,在PRMT7基因中存在2个从未报道过的位点突变c.1136T>C,p.Phe379Ser和外显子10-14杂合缺失。结论 本文首次报道了1例中国PRMT7基因突变的患儿,进一步扩展了PRMT7变异的基因谱与表型谱。其诊断及治疗具有挑战性,仍需更深入的研究。Objective Short stature,brachydactyly,intellectual developmental disability and seizures is an autosomal recessive disorder caused by mutations in the PRMT7 gene.This report aims to explore the characteristics of patients with PRMT7 mutations and summarize the clinical features.Methods The PRMT7 gene variant was detected in one patient by whole-exome sequencing,and the site was verified by Sanger sequencing of this family.By reviewing the literature,we reviewed and summarized the phenotypic profiles associated with mutations in the PRMT7 gene and summarized the clinical characteristics of SBIDDS.Results We report a case in China with refractory epilepsy,intellectual developmental disability,short stature,facial deformity,brachydactyly,and asymmetric cerebral shape.The results of genetic analysis showed that there were two unreported site mutations in PRMT7 gene c.1136T>C,p.Phe379Ser and heterozygous deletion in exon 10-14.Conclusion We reported the first case of PRMT7 gene mutation in China,which further expanded the gene spectrum and phenotype spectrum of PRMT7 mutation.Its diagnosis and treatment are challenging and still need more intensive research.

关 键 词：PRMT7基因 癫痫发作 身材矮小 短指 智力发育障碍 

分 类 号：R742.1[医药卫生—神经病学与精神病学]