摘要
Kleefstra综合征(KS)是一种罕见的常染色体显性遗传病,由9号染色体上长臂亚端粒34.3区段(9q34.3)缺失或常染色质组蛋白甲基转移酶1(EHMT1)基因内点突变引起。KS患者的主要临床特征包括神经发育障碍、智力障碍和肌张力降低等。本研究报道1例9q34.3微缺失导致的EHMT1基因外显子1-27杂合缺失的KS患儿的临床特征以及诊疗经过,指出KS患儿早期接受营养神经治疗可能是有效的。
Kleefstra syndrome(KS)is a rare autosomal dominant genetic disorder caused by deletion of the long arm subtelomere 34.3 segment on chromosome 9(9q34.3)or a point mutation within the euchromatic histone methyltransferase 1(EHMT1)gene.The main clinical features of KS patients include neurodevelopmental disorders,intellectual impairment and reduced muscle tone.This study reports the clinical characteristics and diagnosis and treatment process of a case of KS with EHMT1 gene exon 1-27 heterozygous deletion caused by 9q34.3 microdeletion,indicating that early nutritional nerve therapy may be effective for KS patients.
作者
李国艳
刘超
魏子涵
曹咪
冯研
甘亚静
邓艳春
LI Guoyan;LIU Chao;WEI Zihan;CAO Mi;FENG Yan;GAN Yajing;DENG Yanchun(Xi'an Medical College,Xi'an 710021,China;Department of Neurology,the First Affiliated Hospital of Air Force Military Medical University,Xi'an 710032,China)
出处
《实用心脑肺血管病杂志》
2023年第7期138-140,共3页
Practical Journal of Cardiac Cerebral Pneumal and Vascular Disease
基金
国家重点研发计划项目(2022YFC2503801)。
