Trps1 Haploinsufficiency Results in Increased STAT3 and SOX9 mRNA Expression in Hair Follicles in Trichorhinophalangeal Syndrome

The study investigated the role of TRPS1 in hair follicles, particularly in a Japanese patient with trichorhinophalangeal syndrome (TRPS) who exhibited hypotrichosis and skeletal abnormalities. Researchers identified a novel heterozygous mutation in TRPS1, leading to mRNA decay and loss of repressive function of the TRPS1 protein. This haploinsufficiency resulted in increased expression of STAT3 and SOX9 mRNA in hair follicles, suggesting that these pathways might contribute to the hair growth issues observed in TRPS. The findings provided new insights into the molecular mechanisms underlying TRPS and its impact on hair follicle signaling.