Comprehensive Transcriptome Profiling of Balding and Non-Balding Scalps in Trichorhinophalangeal Syndrome Type I Patient

In 2017, a study was conducted on a 15-year-old male patient with Trichorhinophalangeal syndrome type I (TRPS I) to investigate the genetic differences between balding and non-balding scalp areas. Using high-throughput RNA sequencing, researchers identified 26,320 genes, with 1,242 showing differential expression between the two scalp areas. The study found 12 genes down-regulated and three genes up-regulated in the balding scalp, including genes related to keratin and hair development, which may play a role in hair loss. The TRPS1 gene was also suggested to be associated with androgen metabolism and hair morphogenesis. These results could provide new insights into the pathogenesis of hair loss and the biology of hair growth in TRPS I.