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

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

Research output: Contribution to journal › Article › peer-review

9 Citations (Scopus)

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 language	English
Article number	17017
Journal	Human Genome Variation
Volume	4
DOIs	https://doi.org/10.1038/hgv.2017.17
Publication status	Published - 2017 May 18
Externally published	Yes

ASJC Scopus subject areas

Biochemistry
Molecular Biology
Genetics

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title = "The first Japanese case of central precocious puberty with a novel MKRN3 mutation",

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).",

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AU - Nishioka, Junko

AU - Shima, Hirohito

AU - Fukami, Maki

AU - Yatsuga, Shuichi

AU - Matsumoto, Takako

AU - Ushijima, Kikumi

AU - Kitamura, Miyuki

AU - Koga, Yasutoshi

PY - 2017/5/18

Y1 - 2017/5/18

N2 - 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).

AB - 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).

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

Abstract

ASJC Scopus subject areas

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