作者：李国艳，刘超，魏子涵，曹咪，冯研，甘亚静，邓艳春

单位：

1.西安医学院2.空军军医大学第一附属医院神经内科

Units：

1.Xi'an Medical College, Xi'an 710021, China 2.Department of Neurology, the First Affiliated Hospital of Air Force Military Medical University, Xi'an 710032, China

关键词：

染色体疾病; Kleefstra综合征; EHMT1基因; 病例报告;

Keywords：

Chromosome disorders; Kleefstra syndrome; EHMT1 gene; Case reports

CLC：

DOI：

10.12114/j.issn.1008-5971.2023.00.182

Funds：

国家重点研发计划项目（2022YFC2503801）

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。

Abstract：

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.

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