Abstract:
UNASSIGNED: Coffin-Siris syndrome (CSS) is a multiple congenital anomaly syndrome characterized by coarse facial features, sparse scalp hair, hypertrichosis, and hypo/aplastic digital nails and phalanges. Mutations in the BAF (SWI/SNF)-complex subunits (SMARCE1, SMARCB1, SMARCA4, SMARCA2, ARID1B, and ARID1A) have been shown to cause CSS. People diagnosed with BAF pathway related diseases are increasing, and ARID2 (NM_152641.4) is the least common of these genes. Mutations in the ARID2 gene is the cause for Coffin-Siris syndrome 6 (CSS6). By now only 16 individuals with CSS have been reported to have pathogenic variants in ARID2.
UNASSIGNED: In this article, we introduced two individuals with clinical features consistent with CSS6 (Coffin-Siris syndrome 6). This article increases the number of reported cases, provides better phenotypic information for this rare syndrome, and allows everyone to better understand the disease.
UNASSIGNED: Our observations indicate that ARID2 mutations could have variable phenotypes, even in patients from the same family.
摘要:
■Coffin-Siris综合征(CSS)是一种多重先天性异常综合征,其特征是面部特征粗糙,稀疏的头皮头发,多毛症,和低/再塑数字指甲和指骨。BAF(SWI/SNF)-复合物亚基(SMARCE1,SMARCB1,SMARCA4,SMARCA2,ARID1B,和ARID1A)已被证明会导致CSS。被诊断为BAF通路相关疾病的人越来越多,ARID2(NM_152641.4)是这些基因中最不常见的。ARID2基因的突变是Coffin-Siris综合征6(CSS6)的原因。到目前为止,据报道只有16名患有CSS的个体在ARID2中具有致病变异。
■在本文中,我们介绍了两名临床特征与CSS6(Coffin-Siris综合征6)一致的患者.这篇文章增加了报告的病例数,为这种罕见的综合征提供了更好的表型信息,让每个人都更好地了解这种疾病。
■我们的观察表明,ARID2突变可能具有可变的表型,即使是同一个家庭的病人.