A novel heterozygous MKRN3 nonsense mutation in a Chinese girl with idiopathic central precocious puberty: A case report.

Abstract excerpt

RATIONALE: Central precocious puberty (CPP) is caused by the premature activation of the hypothalamic-pituitary-gonadal axis. Recently, the makorin ring finger protein 3 (MKRN3) mutations represent the most common genetic defects associated with CPP. However, the MKRN3 mutation is relatively rare in Asian countries. Here, we identified a novel heterozygous MKRN3 nonsense mutation (p. Gln363) causing CPP in a...

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