Dataset Information
ARID2, a Rare Cause of Coffin-Siris Syndrome: A Clinical Description of Two Cases.
Ontology highlight
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. 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.Case presentation
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.Conclusion
Our observations indicate that ARID2 mutations could have variable phenotypes, even in patients from the same family.
SUBMITTER: Wang X
PROVIDER: S-EPMC9265212 | biostudies-literature | 2022
REPOSITORIES: biostudies-literature
Publications
ARID2, a Rare Cause of Coffin-Siris Syndrome: A Clinical Description of Two Cases.
Frontiers in pediatrics 20220623
<h4>Background</h4>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 <i>ARID2</i> (NM_152641.4) is the least common of these genes. Mutations in the AR ...[more]