A Case of Tricho-Rhino-Phalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene

This document details a case of Trichorhinophalangeal syndrome (TRPS) in a 17-year-old male, caused by a novel heterozygous nonsense mutation in the TRPS1 gene. The patient exhibited typical TRPS features, including sparse hair and skeletal abnormalities. Genetic analysis identified a c.2065C>T mutation in the TRPS1 gene, resulting in a truncated, non-functional protein, and classified as pathogenic. This mutation was de novo, not found in the patient's parents. The study underscores the importance of genetic testing for accurate diagnosis and suggests that TRPS1 plays a role in bone growth and tumor regulation, though further research is needed.