Low Frequency of MKRN3 Mutations in Central Precocious Puberty Among Korean Girls.
Mutations of MKRN3, the gene encoding makorin RING-finger protein 3, lead to central precocious puberty (CPP). The aim of this study was to investigate mutations of the MKRN3 gene in Korean girls with CPP. Two hundred-sixty Korean girls with idiopathic CPP were included. Auxological and endocrine parameters were measured, and the entire MKRN3 gene was directly sequenced. MKRN3 gene analysis revealed one novel nonsense mutation (p.Gln281 *) and 6 missense variants (p.Ile100Phe, p.Gly196Val, p.Ile204Thr, p.Gln226Pro, p.Lys233Asn, and p.Ser396Arg). The novel nonsense mutation (p.Gln281 *) was a heterozygous C>T nucleotide change (c.841C>T) predicted to result in a truncated protein due to a premature stop codon in the MKRN3 gene. The nonsense mutation (p.Gln281 *) was only identified in one of the girls and her younger brother. Compared to previous reports on MKRN3 mutations in familial and sporadic cases of CPP, the present study reveals a relatively low number of MKRN 3 mutations in Korean girls with CPP. Larger samples of children with CPP and MKRN3 mutations are necessary in order to clarify whether the clinical course of puberty may differ as compared to idiopathic CPP.
Department of Pediatrics, Ajou University School of Medicine, Suwon, Republic of Korea.
H S
HS
Lee
Department of Medical Genetics, Ajou University School of Medicine, Suwon, Republic of Korea.
H-S
HS
Jin
Department of Pediatrics, Ajou University School of Medicine, Suwon, Republic of Korea.
Y S
YS
Shim
Department of Pediatrics, Ajou University School of Medicine, Suwon, Republic of Korea.
H R
HR
Jeong
Department of Pediatrics, Ajou University School of Medicine, Suwon, Republic of Korea.
E
E
Kwon
Department of Medical Genetics, Ajou University School of Medicine, Suwon, Republic of Korea.
V
V
Choi
Department of Medical Genetics, Ajou University School of Medicine, Suwon, Republic of Korea.
M-C
MC
Kim
Department of Medical Genetics, Ajou University School of Medicine, Suwon, Republic of Korea.
I-S
IS
Chung
Department of Medical Genetics, Ajou University School of Medicine, Suwon, Republic of Korea.
S-Y
SY
Jeong
Department of Pediatrics, Ajou University School of Medicine, Suwon, Republic of Korea.
J S
JS
Hwang
D019943:Amino Acid Substitution; D044466:Asian People; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008297:Male; D059645:Mutation Rate; D020125:Mutation, Missense; D011629:Puberty, Precocious / Q000453:epidemiology / Q000235:genetics*; D056910:Republic of Korea / Q000453:epidemiology; D012261:Ribonucleoproteins / Q000235:genetics*; D044767:Ubiquitin-Protein Ligases
D012261:Ribonucleoproteins; C119425:MKRN3 protein, human; D044767:Ubiquitin-Protein Ligases