2025 年第 7 期 第 20 卷

新生儿SLC12A2基因突变致SLC12A2综合征1例

One case of neonatal SLC12A2 syndrome caused by SLC12A2 gene mutation

作者：李洁蕊1张楠2杨敏1刘秀琴2

英文作者：Li Jierui1 Zhang Nan2 Yang Min1 Liu Xiuqin2

单位：1山东第二医科大学临床医学院，潍坊261053；2山东省青岛市市立医院儿科，青岛266071

英文单位：1School of Clinical Medicine Shandong Second Medical University Weifang 261053 China; 2Department of Pediatrics Qingdao Municipal Hospital Shandong Province Qingdao 266071 China

关键词：

英文关键词：SLC12A2syndrome;Neonates;Genemutation

• 摘要：

• SLC12A2综合征临床少见，由SLC12A2基因突变引起。本文对山东省青岛市市立医院诊治的1例SLC12A2综合征新生儿的临床表现及基因进行分析。患儿男，出生32 min，因“发现肌张力增高10 min”入院。基因检查示SLC12A2基因c.1666A>G杂合变异，来源于父亲。国内尚未见该基因突变所致疾病的相关报道，国外相关报道提示该基因突变呈现出多样化的临床表现，但无肌张力升高的相关报道，本例患儿表现不同，总结资料报道以引起临床医师重视、提高对该病的认识、为相关诊治提供参考。

• SLC12A2 syndrome is rare and caused by mutations in the SLC12A2 gene. This article analyzes the clinical manifestations and genes of a newborn with SLC12A2 syndrome treated at Qingdao Municipal Hospital, Shandong Province. The male patient, 32 min old, was admitted to the hospital due to the discovery of a 10 min increase in muscle tone. Genetic testing showed a heterozygous c.1666A>G variant of SLC12A2 gene, which came from his father. The disease caused by this gene mutation has not been reported in China. Foreign reports suggest that this gene mutation presents diverse clinical manifestations, but there is no related report of elevated muscle tone. This case has different manifestations. The data are summarized and reported in order to attract the attention of clinicians, improve the understanding of the disease, and provide reference for related diagnosis and treatment.