Coffin-Siris Syndrome Presents with Novel ARID-2 Gene Mutation

Case Report

J Pediatr & Child Health Care. 2023; 8(1): 1061.

Coffin-Siris Syndrome Presents with Novel ARID-2 Gene Mutation

Kaivan Patel1,3*; Shital Patel2; Abhijit Pandya3; Patricia Rowe-King5

1Department of Academic Research, Advanced Research LLC, Florida, USA

2Department of Medicine, Physical Research Laboratory, Ahmedabad, India

3Department of Electrical and computer engineering, Florida Atlantic University, Florida USA

4Department of Graduate Medical Education, Broward Health, Florida, USA

*Corresponding author: Kaivan Patel Department of Academic Research, ADVANCED RESEARCH LLC, Florida, USA. Email: [email protected]

Received: July 03, 2023 Accepted: July 28, 2023 Published: August 04, 2023


Coffin-Siris Syndrome (CSS) is a rare genetic condition most commonly associated with ARID1A, ARID1B, ARID 2, SMARCA4, SMARCB1, DPF2, and SMARCE1 genetic mutations. The most common features of CSS are intellectual disabilities and facial abnormalities. We report a case of a 10-month-old infant who presented with craniosynostosis and developmental delays. Clinical improvement was observed after conservative therapy. This paper discusses the BAF gene family and how mutations in this gene family influence the development of children. The prognosis of CSS has also been discussed.

Keywords: Coffin siris syndrome; ARID-2 gene mutation; De novo mutation; Craniosynostosis; Intellectual disability


Coffin-Siris Syndrome (CSS) is a rare genetic condition that affects neuromuscular development of newborns on an annual basis world worldwide. It is most commonly caused by mutations in the ARID1A, ARID1B, ARID 2, SMARCA4, SMARCB1, DPF2 and SMARCE1 genes which are subunits of BAF complex.

The BRG1/BRM-Associated Factor (BAF) complex, a subunit of mammalian SWI/SNF complex, is crucial for regulating gene expression and differentiation of neuronal cell lineage. SWI/SNF complex was first identified in yeast [1]. The BAF complex has three sub-units, Polybromo-Associated BAF complex (PBAF), Canonical BAF complex (cBAF), and non-canonical BAF complex (ncBAF) (Figure 1). The BAF complex affects different stages of development. The mutation causes significant damage to the development of different organ systems. Mutations primarily cause abnormal embryonic development, neural development, and abnormal tumor suppression, which causes cancer [2].