A Novel Variant of ARID1B-Related Coffin-Siris Syndrome in a Saudi Girl: A Case Report

Coffin-Siris syndrome (CSS) is a rare genetic disorder characterized by underdeveloped toenails or fingernails, developmental delays, and intellectual disability, among other characteristics. The clinical manifestations can vary significantly. We present a case involving a Saudi girl who had global developmental delay, hypertrichosis, and subtle dysmorphic traits since birth but remained undiagnosed until the age of nine. A novel pathogenic heterozygous variant c.1314del p.(Glu439Serfs*63) in the ARID1B gene was identified through whole-exome sequencing (WES). Consequently, she was referred to a multidisciplinary team that managed her symptomatically. This case exemplifies the necessity of considering the syndrome in patients exhibiting developmental delays and unusual features such as hypertrichosis. Furthermore, this study highlights the importance of utilizing advanced medical technologies, such as WES, for timely diagnosis and effective management.