Identification of a Novel RPS6KA3 Variant in a Female Child With Features of Coffin-Lowry Syndrome: A Case Study

This case study discusses a 9-year-old female with Coffin-Lowry Syndrome (CLS), a rare X-linked disorder, who presents with obesity, developmental delays, and precocious puberty, a relatively new finding associated with CLS. The patient exhibits typical CLS features and has a novel RPS6KA3 variant. Despite her condition, she is well-managed without medication, and her obesity is being addressed through lifestyle changes. The study highlights the potential association between CLS and precocious puberty, noting that while CLS is typically linked with delayed puberty, this case suggests a possible new dimension to the syndrome. The authors emphasize the need for further investigation to understand the relationship between CLS and precocious puberty better.