SMC1A基因c.2923C>T突变致反复癫痫发作的德朗热综合征1例并文献复习n

• 作 者: 张芳敏 韩子明 王晓月 赵德安 韩玫瑰 黄倩 朱小娟 刘佩佩 王凌超
• 机 构: 新乡医学院第一附属医院儿科，卫辉 453100;河南大学第一附属医院儿科，开封 475000
• 出 处: 中华实用儿科临床杂志
• 发表日期: 2022年2期
• 关键词: Cornelia de Lange syndrome Seizures SMC1A gene mutationn

目的:探讨德朗热综合征(CdLs)的特点、临床表现及基因突变类型，提高临床医师对该病的认识。方法:回顾性分析新乡医学院第一附属医院2019年8月确诊的1例CdLs患儿的临床资料及其基因检测结果。结果:患儿，女，2岁8个月，外貌特殊，鼻梁低平，眼距增宽，招风耳，嘴角下斜，腭弓高，小颌畸形，反复癫痫发作，言语及智力发育落后，基因检测结果示n SMC1A基因c.2923C>T突变，诊断CdLs 2型。n 结论:CdLs属于较为罕见的遗传代谢病，临床表现常有特殊的面容及体征。n SMC1A基因突变在国内仅有1例报道，而n SMC1A基因c.2923C>T突变在国内外均未见报道，扩大了n SMC1A基因变异谱。n “,”Objective:To explore the characteristics, clinical manifestations and gene mutation types of Cornelia de Lange syndrome (CdLs), and to improve the understanding of the disease.Methods:Clinical data and gene test results of a pediatric case of CdLs diagnosed in the First Affiliated Hospital of Xinxiang Medical University in August 2019 were analyzed retrospectively.Results:A female patient with 2 years and 8 months old presented a special appearance with a low and flat nose, a wide eye distance, audition ears, a downward inclination of the mouth corner, a high arch of the jaw and a small jaw deformity, who had recurrent seizures, speech and mental retardation.The result of gene test showed the mutation of n SMC1A gene c. 2923C > T, and thus the patient was diagnosed as type 2 CdLs.n Conclusions:CdLs is a rare genetic metabolic disease with special facial features and physical signs.There is only one case of CdLs with gene mutation of n SMC1A in China through literature review.The mutation of n SMC1A gene c. 2923C>T in CdLs cases has not been reported at home and abroad, which expands the variation spectrum of then SMC1A gene.n