Novel MKRN3 Missense Mutations Associated with Central Precocious Puberty Reveal Distinct Effects on Ubiquitination.
John C MagnottoAlessandra ManciniKeisha BirdLuciana MontenegroFiliz TütüncüleSidney A PereiraVitoria SimasLeonardo GarciaStephanie A RobertsDelanie MacedoMelissa MagnusonPriscila GagliardiNelly MaurasSelma F WitchelRona S CarrollAna Claudia LatronicoUrsula B KaiserAna Paula AbreuPublished in: The Journal of clinical endocrinology and metabolism (2023)
MKRN3 mutations were present in 10.7% of our CPP cohort, consistent with previous studies. The novel identified mutations in different domains of MKRN3 revealed different patterns of ubiquitination, suggesting distinct molecular mechanisms by which the loss of MRKN3 results in early pubertal onset.