A Case of Trichorhinophalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene

This case report details a 17-year-old male with Trichorhinophalangeal Syndrome (TRPS) due to a novel heterozygous nonsense mutation in the TRPS1 gene, c.2065C>T, p.Gln689*. The patient shows typical TRPS symptoms like sparse hair, distinctive facial features, and skeletal abnormalities, but no intellectual disabilities. The mutation is de novo, as it was not found in the parents, suggesting a broader mutation spectrum for TRPS1. The study underscores the importance of genetic testing for accurate diagnosis and the need for interdisciplinary management of TRPS.