AUTHOR=Wang Xiaoyan , Wu Haiying , Sun Hui , Wang Lili , Chen Linqi 

TITLE=ARID2, a Rare Cause of Coffin–Siris Syndrome: A Clinical Description of Two Cases

JOURNAL=Frontiers in Pediatrics

VOLUME=Volume 10 - 2022

YEAR=2022

URL=https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2022.911954

DOI=10.3389/fped.2022.911954

ISSN=2296-2360

ABSTRACT=Abstract
Background
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. Although more and more people are diagnosed with BAF pathway diseases, ARID2 is the least common of these genes. However, only 16 individuals with CSS have been reported to have pathogenic variants in ARID2. 
Case presentation
In this article, we introduced two individuals with clinical features consistent with CSS6. This article increases the number of patients with these mutations, provides better phenotypic information for this rare syndrome, and allows everyone to better understand the disease.
Conclusion
Our observations indicate that ARID2 mutations could have variable phenotypes, even in patients from the same family.