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. 2016 Dec:179:263-265.
doi: 10.1016/j.jpeds.2016.08.065. Epub 2016 Sep 15.

Males with Paternally Inherited MKRN3 Mutations May Be Asymptomatic

Mihaela S Dimitrova-Mladenova  1 , Elisaveta M Stefanova  2 , Maria Glushkova  3 , Albena P Todorova  3 , Tihomir Todorov  4 , Maia M Konstantinova  2 , Krasimira Kazakova  2 , Radka S Tincheva  2
Affiliations

Males with Paternally Inherited MKRN3 Mutations May Be Asymptomatic

Mihaela S Dimitrova-Mladenova et al. J Pediatr. 2016 Dec.

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.

Keywords: central precocious puberty; epigenetic mechanisms; maternal imprinting; novel mutation.

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