Males with Paternally Inherited MKRN3 Mutations May Be Asymptomatic.

Autor: Dimitrova-Mladenova MS; Department of Endocrinology and Genetics, University Children's Hospital, Medical University Sofia, Sofia, Bulgaria. Electronic address: mihaela_mail@abv.bg., Stefanova EM; Department of Endocrinology and Genetics, University Children's Hospital, Medical University Sofia, Sofia, Bulgaria., Glushkova M; Department of Medical Chemistry and Biochemistry, Medical University Sofia, Sofia, Bulgaria; Genetic Medico-Diagnostic Laboratory Genica, Sofia, Bulgaria., Todorova AP; Department of Medical Chemistry and Biochemistry, Medical University Sofia, Sofia, Bulgaria; Genetic Medico-Diagnostic Laboratory Genica, Sofia, Bulgaria., Todorov T; Genetic Medico-Diagnostic Laboratory Genica, Sofia, Bulgaria., Konstantinova MM; Department of Endocrinology and Genetics, University Children's Hospital, Medical University Sofia, Sofia, Bulgaria., Kazakova K; Department of Endocrinology and Genetics, University Children's Hospital, Medical University Sofia, Sofia, Bulgaria., Tincheva RS; Department of Endocrinology and Genetics, University Children's Hospital, Medical University Sofia, Sofia, Bulgaria.
Jazyk: angličtina
Zdroj: The Journal of pediatrics [J Pediatr] 2016 Dec; Vol. 179, pp. 263-265. Date of Electronic Publication: 2016 Sep 15.
DOI: 10.1016/j.jpeds.2016.08.065
Abstrakt: 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.
(Copyright © 2016 Elsevier Inc. All rights reserved.)
Databáze: MEDLINE
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