(Epi)genetic defects of MKRN3 are rare in Asian patients with central precocious puberty

Erina Suzuki, Hirohito Shima, Masayo Kagami, Shun Soneda, Toshiaki Tanaka, Shuichi Yatsuga, Junko Nishioka, Yuji Oto, Toshiya Kamiya, Yasuhiro Naiki, Tsutomu Ogata, Yasuko Fujisawa, Akie Nakamura, Sayaka Kawashima, Shuntaro Morikawa, Reiko Horikawa, Shinichiro Sano, Maki Fukami

Research output: Contribution to journalArticlepeer-review

1 Citation (Scopus)


We sequenced MKRN3, the major causative gene of central precocious puberty in Western countries, in 24 Japanese or Chinese patients and examined the DNA methylation and copy-number statuses of this gene in 19 patients. We identified no (epi)genetic defects except for one previously reported mutation. These results, together with reports from Korea, indicate that MKRN3 defects are rare in Asian populations. The ethnic differences likely reflect Western country-specific founder mutations and the rarity of de novo mutations.

Original languageEnglish
Article number7
JournalHuman Genome Variation
Issue number1
Publication statusPublished - 2019 Dec 1
Externally publishedYes

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Genetics


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