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Article

Central Precocious Puberty Caused by a Heterozygous Deletion in the MKRN3 Promoter Region.

Neuroendocrinology - 1 Jan 2018

Macedo Delanie B, França Monica M, Montenegro Luciana R, Cunha-Silva Marina, Best Danielle S, Abreu Ana Paula, Kaiser Ursula B, Mendonca Berenice B, Jorge Alexander A L, Brito Vinicius N, Latronico Ana Claudia

Abstract excerpt

CONTEXT: Loss-of-function mutations in the coding region of MKRN3, a maternally imprinted gene at chromosome 15q11.2, are a common cause of familial central precocious puberty (CPP). Whether MKRN3 alterations in regulatory regions can cause CPP has not been explored to date. We aimed to investigate potential pathogenic variants in the promoter region of MKRN3 in patients with idiopathic CPP. PATIENTS/METHODS: A...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 29763903
DOI: 10.1159/000490059
PMCID: PMC6363361

Genes

MKRN3
GNRH1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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