ARID2基因突变致Coffin-Siris综合征6型3例报道
Type 6 Coffin-Siris syndrome caused by ARID2 gene mutation:a report of 3 cases
鲁晨辉 1郑宏 2陆相朋 2关家琪 1王宇1
作者信息
- 1. 河南中医药大学儿科医学院,河南郑州 450099
- 2. 河南中医药大学儿科医学院,河南郑州 450099;河南中医药大学第一附属医院,河南郑州 450099
- 折叠
摘要
目的 探讨Coffin-Siris综合征6型(CSS6)患儿的临床表型和分子遗传学特征及其诊断与治疗方法.方法 回顾性分析3例CSS6患儿临床资料并复习相关文献.结果 3例患儿均因"发育迟缓"就诊,存在不同程度的粗糙面容与身高增长缓慢,但在其他表型上存在一定的差异.分子遗传学检测到3个患儿分别存在ARID2 exon1～16杂合性缺失(131.11 kb,患者 1)、ARID2 chr12:46123620-46298861 全基因缺失(患者 2)及 1 例移码变异 ARID2 exon15:c.3586_3592del:p.I1196Qfs*6(患者3),鉴定的3个变异位点未有案例报道,为新发现的致病性变异.结论 鉴定的新ARID2变异扩展了 CSS6的致病性变异谱.CSS6目前尚未有一套公认的诊断标准,须结合临床表现及分子遗传学检测综合诊断,明确诊断后须及时进行并发症的诊断与治疗.
Abstract
Objective To explore the clinical phenotypic and molecular genetic characteristics of type 6 Coffin-Siris syndrome(CSS6)and its diagnosis and treatment.Methods The clinical data of 3 children with CSS6 were analyzed retro-spectively,and related literatures were reviewed.Results All 3 children were treated for"growth retardation",with different degrees of rough.face and slow growth of height,but there were some differences in other phenotypes.Molecular genetics showed that ARID2 exon1-16 loss of heterozygosity(131.11 kb,patient 1),ARID2 chr12:46123620-46298861 complete dele-tion(patient 2)and one case of frameshift variant ARID2 exon15:c.3586_3592del:p.I1196Qfs*6(patient 3),the three identified mutation sites have not been reported,which are newly discovered pathogenic variants.Conclusion The identified new ARID2 variant expands the pathogenicity variation spectrum of CSS6.Currently,there is not a set of recognized diagnostic criteria for CSS6,which should be combined with clinical manifestations and molecular genetic tests,and the diagnosis and treatment of complications should be carried out in time after clear diagnosis.
关键词
Coffin-Siris综合征6型/ARID2/发育迟缓/身材矮小Key words
Coffin-Siris syndrome 6/ARID2/developmental delay/short stature引用本文复制引用
出版年
2024
NETL
NSTL
万方数据