title: Males with Paternally Inherited MKRN3 Mutations May Be Asymptomatic.
abstract: 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.
authors.affiliation: Department of Endocrinology and Genetics, University Children's Hospital, Medical University Sofia, Sofia, Bulgaria. Electronic address: mihaela_mail@abv.bg.
authors.forename: Mihaela S
authors.initials: MS
authors.lastname: Dimitrova-Mladenova
authors.affiliation: Department of Endocrinology and Genetics, University Children's Hospital, Medical University Sofia, Sofia, Bulgaria.
authors.forename: Elisaveta M
authors.initials: EM
authors.lastname: Stefanova
authors.affiliation: Department of Medical Chemistry and Biochemistry, Medical University Sofia, Sofia, Bulgaria; Genetic Medico-Diagnostic Laboratory Genica, Sofia, Bulgaria.
authors.forename: Maria
authors.initials: M
authors.lastname: Glushkova
authors.affiliation: Department of Medical Chemistry and Biochemistry, Medical University Sofia, Sofia, Bulgaria; Genetic Medico-Diagnostic Laboratory Genica, Sofia, Bulgaria.
authors.forename: Albena P
authors.initials: AP
authors.lastname: Todorova
authors.affiliation: Genetic Medico-Diagnostic Laboratory Genica, Sofia, Bulgaria.
authors.forename: Tihomir
authors.initials: T
authors.lastname: Todorov
authors.affiliation: Department of Endocrinology and Genetics, University Children's Hospital, Medical University Sofia, Sofia, Bulgaria.
authors.forename: Maia M
authors.initials: MM
authors.lastname: Konstantinova
authors.affiliation: Department of Endocrinology and Genetics, University Children's Hospital, Medical University Sofia, Sofia, Bulgaria.
authors.forename: Krasimira
authors.initials: K
authors.lastname: Kazakova
authors.affiliation: Department of Endocrinology and Genetics, University Children's Hospital, Medical University Sofia, Sofia, Bulgaria.
authors.forename: Radka S
authors.initials: RS
authors.lastname: Tincheva
mesh_terms: D058070:Asymptomatic Diseases; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D000072740:Paternal Inheritance; D010375:Pedigree; D011629:Puberty, Precocious / Q000235:genetics*; D012261:Ribonucleoproteins / Q000235:genetics*; D044767:Ubiquitin-Protein Ligases
chemical_list: D012261:Ribonucleoproteins; C119425:MKRN3 protein, human; D044767:Ubiquitin-Protein Ligases
keywords: central precocious puberty; epigenetic mechanisms; maternal imprinting; novel mutation