NSRP1 and hereditary disease: Thus, we considered PCNT a candidate gene for this disorder because of its high mRNA expression in the cortex and skeletal muscle and the lack of clinical reports for AHNAK, CCDC15, COBL, DCAF5, MCF2L, NSRP1, NSRP1, RMDN3, and TTYH2. Notably, p.C721R/p.C839R of PCNT has not yet been reported as a candidate variant for skeletal disorders in the Nosology and Classification of Genetic Skeletal Disorders, which serves as a “master” list of genetic disorders of the skeleton to facilitate diagnosis and to help delineate variants or newly recognized conditions [13].