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Article

Males with Paternally Inherited MKRN3 Mutations May Be Asymptomatic.

The Journal of pediatrics - 1 Dec 2016

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

Abstract excerpt

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.

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27640350
DOI: 10.1016/j.jpeds.2016.08.065

Genes

MKRN3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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