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Article

A case of familial central precocious puberty caused by a novel mutation in the makorin RING finger protein 3 gene.

BMC endocrine disorders - 23 Oct 2015

Grandone Anna, Cantelmi Grazia, Cirillo Grazia, Marzuillo Pierluigi, Luongo Caterina, Miraglia del Giudice Emanuele, Perrone Laura

Abstract excerpt

BACKGROUND: Central precocious puberty (CPP) is often familial but its genetic cause is largely unknown. Very recently, the makorin RING finger protein 3 (MKRN3) gene, located on chromosome 15 in the Prader-Willi syndrome (PWS)-associated region (15q11-q13), has been found mutated in 5 families with familial precocious puberty. The MKRN3 is a maternal imprinted gene and the phenotype is expressed only when the...

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Identifiers

PMID: 26499472
DOI: 10.1186/s12902-015-0056-8
PMCID: PMC4619005

Genes

MKRN3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

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A case of familial central precocious puberty caused by a novel mutation in the makorin RING finger protein 3 gene.PMID 26499472Read ↗

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