{Reference Type}: Case Reports
{Title}: ARID2, a Rare Cause of Coffin-Siris Syndrome: A Clinical Description of Two Cases.
{Author}: Wang X;Wu H;Sun H;Wang L;Chen L;
{Journal}: Front Pediatr
{Volume}: 10
{Issue}: 0
{Year}: 2022
{Factor}: 3.569
{DOI}: 10.3389/fped.2022.911954
{Abstract}: <B>UNASSIGNED: </B>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.<BR><B>UNASSIGNED: </B>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.<BR><B>UNASSIGNED: </B>Our observations indicate that ARID2 mutations could have variable phenotypes, even in patients from the same family.