Identification and Functional Characterization of Novel and Recurrent NTRK1 Variants in Chinese Families With Congenital Insensitivity to Pain With Anhidrosis: A Combined Clinical, Genetic, and Functional Study

Our findings expand the mutational spectrum of NTRK1 with two novel variants associated with CIPA and delineate the specific step(s) within the NGF-TrkA pathway affected by each variant, thereby establishing a link between genotype and the observed phenotypic severity. This study provides a crucial theoretical and experimental foundation for the future development of personalized therapies for CIPA patients.