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

doi:10.1038/hgv.2017.17

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

Hum Genome Var. 2017 May 18:4:17017. doi: 10.1038/hgv.2017.17. eCollection 2017.

Authors

Junko Nishioka¹, Hirohito Shima², Maki Fukami², Shuichi Yatsuga¹, Takako Matsumoto¹, Kikumi Ushijima^{1

2}, Miyuki Kitamura¹, Yasutoshi Koga¹

Affiliations

¹ Department of Pediatrics and Child Health, Kurume University School of Medicine, Fukuoka, Japan.
² Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.

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).