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

Authors
Jeong, HR | Lee, HS  | Hwang, JS
Citation
Journal of pediatric endocrinology & metabolism : JPEM, 30(11). : 1197-1201, 2017
Journal Title
Journal of pediatric endocrinology & metabolism : JPEM
ISSN
0334-018X2191-0251
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.
MeSH

DOI
10.1515/jpem-2016-0471
PMID
28988223
Appears in Collections:
Journal Papers > School of Medicine / Graduate School of Medicine > Pediatrics & Adolescent Medicine
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