| 邵丹,叶新华.肌动蛋白样 6B蛋白基因变异致智力障碍、发育迟缓 1例并文献复习[J].安徽医药,2025,29(8):1670-1673. |
| 肌动蛋白样 6B蛋白基因变异致智力障碍、发育迟缓 1例并文献复习 |
| A case of mental retardation and growth retardation caused by actin like 6B gene mutation and literature review |
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| DOI：10.3969/j.issn.1009-6469.2025.08.038 |
| 中文关键词: 智力障碍 基因变异 发育迟缓 肌动蛋白样 6B蛋白基因 癫痫 婴儿 |
| 英文关键词: Intellectual disability Gene variation Developmental delay ACTL6B genes Epilepsy Infant |
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| 中文摘要: |
| 目的提高对肌动蛋白样 6B蛋白( ACTL6B)基因变异所致疾病临床特征的认识。方法回顾性分析 2022年 7月 4日就诊于兰州大学第一医院的 1例 ACTL6B基因变异病儿的临床资料，总结临床表现、诊断及治疗并文献复习。结果 2岁 1个月男性幼儿，因智力障碍、发育迟缓入院， 5月龄首诊时表现为智力障碍、发育迟缓， 2岁时首次出现癫痫发作。基因检测诊断为 ACTL6B基因剪切变异 c.467+1G>C(exon5，NM_016188)，根据美国医学遗传学与基因组学学会指南( ACMG)分析该基因变异为致病性变异。目前检索文献数据库中无该位点的相关报道，为新变异位点。结论该病例丰富了 ACTL6B基因变异谱，同时表明 ACTL6B基因变异可致病儿生长发育迟缓、智力障碍及药物难治性癫痫，临床上需对有相似临床表现的病儿及早完善基因学检测，以期早诊断、早治疗及进行遗传指导。 |
| 英文摘要: |
| Objective To improve the understanding of the clinical characteristics of diseases caused by actin like 6B (ACTL6B) gene mutation.Methods The clinical data of a child with an ACTL6B gene variant who visited The First Hospital of Lanzhou Universi-ty on July 4, 2022 were retrospectively analyzed. The clinical manifestations, diagnosis, and treatment of the case were summarized,and the literature was reviewed.Results A2-year-old and 1-month-old boy was admitted to the hospital because of mental retardationand developmental delay. At the first diagnosis at 5 months old, he presented with mental retardation and developmental delay. Thefirst epileptic seizure occurred at 2 years old. Genetic testing diagnosed ACTL6B gene splicing mutation c.467+1G>C (exon5, NM_016188), which was analyzed as a pathogenic variant according to the guidelines of the American College of Medical Genetics and Ge-nomics (ACMG). At present, there was no relevant report on this site in the searched literature database, and it is a new variant site.Conclusions This case enriches the variation spectrum of ACTL6B gene, and shows that ACTL6B gene mutation can cause growth re-tardation, mental retardation and drug-resistant epilepsy in children. Clinically, it is necessary to improve the genetic testing of childrenwith similar clinical manifestations as soon as possible, for that early diagnosis, early treatment and genetic guidance. |
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