Males with Paternally Inherited MKRN3 Mutations May Be Asymptomatic.

Ten girls with sporadic central precocious puberty were screened for mutations in the maternally imprinted gene MKRN3 . We detected 1 novel frameshift mutation (p.Arg351Serfs*44) and a previously described mutation (p.Pro161Argfs*10). In the course of investigating the family, genetic analysis found 2 asymptomatic males with paternally inherited MKRN3 mutations, which has not been reported in previous studies.