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

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.