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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).

SUBMITTER: Nishioka J 

PROVIDER: S-EPMC5435957 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature

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The first Japanese case of central precocious puberty with a novel <i>MKRN3</i> mutation.

Nishioka Junko J   Shima Hirohito H   Fukami Maki M   Yatsuga Shuichi S   Matsumoto Takako T   Ushijima Kikumi K   Kitamura Miyuki M   Koga Yasutoshi Y  

Human genome variation 20170518

<i>MKRN3</i>, 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 <i>MKRN3</i> 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 <i>MKRN3</i> (p.Glu229Argfs*3). ...[more]

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