PDF(Pubmed)
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.
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.
■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.
