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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… Click to show full 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).
Keywords:
mkrn3;
precocious puberty;
first japanese;
central precocious;
mutation
Journal Title: Human Genome Variation
Year Published: 2017
Link to full text (if available)
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Journal Title: Human Genome Variation
Year Published: 2017
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!