The first Japanese case of central precocious puberty with a novel MKRN3 mutation

Junko Nishioka, Hirohito Shima, Maki Fukami, Shuichi Yatsuga, Takako Matsumoto, Kikumi Ushijima, Miyuki Kitamura, Yasutoshi Koga

Research output: Contribution to journalArticlepeer-review

Abstract

MKRN3, located on chromosome 15q11.2, encodes makorin ring-finger 3, which is an upstream suppressor of the hypothalamic-pituitary-gonadal axis. Mutation of this gene induces central precocious puberty (CPP). As MKRN3 is maternally imprinted, only the paternal allele is expressed. This is the first report of an 8-year-old Japanese girl with CPP caused by a novel frameshift mutation in MKRN3 (p.Glu229Argfs∗3).

Original languageEnglish
Article number17017
JournalHuman Genome Variation
Volume4
DOIs
Publication statusPublished - 2017 May 18
Externally publishedYes

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Genetics

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