RESUMO

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.

Assuntos

Doenças Assintomáticas , Mutação , Herança Paterna , Puberdade Precoce/genética , Ribonucleoproteínas/genética , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Linhagem , Ubiquitina-Proteína Ligases