Jeong Hwal Rim, Lee Hae Sang, Hwang Jin Soon
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J Pediatr Endocrinol Metab. 2017 Oct 26;30(11):1197-1201. doi: 10.1515/jpem-2016-0471.
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.
To identify MKRN3 gene mutations or polymorphisms in Korean patients with familial CPP.
26 patients with CPP and their parents (total 13 families) were recruited. We measured endocrine and auxological parameters, and sequenced all MKRN3 exons.
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.
MKRN3 mutation is uncommon in Korean patients with familial CPP. Ethnic variation in the MKRN3 mutational status is thus evident.
性早熟是一种特发性、散发性疾病。最近研究表明，特定突变可导致家族性中枢性性早熟（CPP）。马克罗林环指蛋白3（MKRN3）基因在青春期发挥关键作用；该基因功能丧失性突变会引发家族性CPP。迄今为止，多数已报道的患者来自西方；亚洲CPP患者的记录较少。
鉴定韩国家族性CPP患者的MKRN3基因突变或多态性。
招募26例CPP患者及其父母（共13个家庭）。我们测量了内分泌和体格学参数，并对所有MKRN3外显子进行测序。
我们未发现MKRN3突变。鉴定出两个MKRN3外显子多态性。在8个家庭中发现g.23566445 C/T多态性；在1个家庭中发现一个新的单核苷酸多态性（SNP）g.23567001 A/C。这些变异是同义SNP；其功能作用尚不清楚。
MKRN3突变在韩国家族性CPP患者中并不常见。因此，MKRN3突变状态存在种族差异是明显的。
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