Makorin ring finger 3 gene analysis in Koreans with familial precocious puberty

J Pediatr Endocrinol Metab. 2017 Oct 26;30(11):1197-1201. doi: 10.1515/jpem-2016-0471.

Abstract

Background: Precocious puberty is known as an idiopathic, sporadic disease. Recently, specific mutations have been shown to cause familial central precocious puberty (CPP). The makorin ring finger 3 (MKRN3) gene plays a key role in puberty; loss-of-function mutations in the gene trigger familial CPP. To date, most described patients have been Western; few Asians with CPP have been documented.

Objective: To identify MKRN3 gene mutations or polymorphisms in Korean patients with familial CPP.

Methods: 26 patients with CPP and their parents (total 13 families) were recruited. We measured endocrine and auxological parameters, and sequenced all MKRN3 exons.

Results: We found no MKRN3 mutations. Two MKRN3 exon polymorphisms were identified. The g.23566445 C/T polymorphism was found in eight families; a novel single nucleotide polymorphism (SNP) g.23567001 A/C was found in one family. These variants are synonymous SNPs; their functional roles remain unknown.

Conclusions: MKRN3 mutation is uncommon in Korean patients with familial CPP. Ethnic variation in the MKRN3 mutational status is thus evident.

Keywords: MKRN3 gene; familial precocious puberty; polymorphism; precocious puberty.

MeSH terms

  • Biomarkers / analysis*
  • Child
  • Female
  • Follow-Up Studies
  • Genetic Predisposition to Disease*
  • Humans
  • Male
  • Pedigree
  • Polymorphism, Single Nucleotide*
  • Prognosis
  • Puberty, Precocious / epidemiology*
  • Puberty, Precocious / genetics*
  • Republic of Korea / epidemiology
  • Ribonucleoproteins / genetics*
  • Sequence Analysis, DNA
  • Ubiquitin-Protein Ligases

Substances

  • Biomarkers
  • Ribonucleoproteins
  • MKRN3 protein, human
  • Ubiquitin-Protein Ligases