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

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)、ARID2chr12:46123620-46298861全基因缺失(患者2)及1例移码变异ARID2exon15: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。

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 retrospectively,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 deletion(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 ARID2variant 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.