You are currently viewing In silico analysis of a novel MKRN3 missense mutation in familial central precocious puberty.
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In silico analysis of a novel MKRN3 missense mutation in familial central precocious puberty.

Abstract
The onset of puberty is influenced by the interplay of stimulating and restraining factors, many of which have a genetic origin. Premature activation of the GnRH secretion in central precocious puberty (CPP) may arise either from gain-of-function mutations of the KISS1 and KISS1R genes or from loss-of-function manner mutations of the MKRN3 gene leading to MKRN3 deficiency.

To explore the genetic causes responsible for CPP and the potential role of the RING finger protein 3 (MKRN3) gene.
We investigated potential sequence variations in the intronless MKRN3 gene by Sanger sequencing of the entire 507 amino acid coding region of exon 1 in a family with two affected girls presented with CPP at the age of 6 and 5·7 years, respectively.