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MKRN3 mutations in familial central precocious puberty.

Felix Schreiner¹, Bettina Gohlke, Michaela Hamm

¹Pediatric Endocrinology Division, Children's Hospital, University of Bonn, Bonn, Germany.

Hormone Research in Paediatrics

|July 12, 2014

Summary

Loss-of-function mutations in the makorin RING finger protein 3 (MKRN3) gene are a frequent cause of familial central precocious puberty (CPP). These MKRN3 mutations may also explain some isolated CPP cases due to their unique inheritance pattern.

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Area of Science:

Genetics
Endocrinology
Pediatrics

Background:

Familial central precocious puberty (CPP) is a rare condition characterized by early onset of puberty.
Loss-of-function mutations in the paternally imprinted MKRN3 gene have been identified as a cause of familial CPP.
The inheritance pattern of MKRN3 mutations contrasts with the female predominance observed in idiopathic CPP.

Purpose of the Study:

To investigate the role of MKRN3 mutations in familial and idiopathic CPP.
To identify novel MKRN3 mutations in patients with CPP.
To assess the prevalence of MKRN3 mutations in CPP cases.

Main Methods:

Genetic screening of MKRN3 in families and patients with idiopathic CPP.
Identification and characterization of MKRN3 variants.
Analysis of mutation types and their potential impact on protein function.

Main Results:

Identified two further families with loss-of-function MKRN3 mutations, including a novel variant (c.331G>T, p.Glu111*).
MKRN3 mutations were found to be a frequent cause of familial CPP.
A significant proportion of identified mutations resulted in premature stop codons, suggesting potential for milder phenotypes.

Conclusions:

MKRN3 mutations are a significant genetic cause of familial CPP.
These mutations may also contribute to a subset of isolated CPP cases.
Further studies in larger cohorts are needed to determine the precise prevalence of MKRN3 mutations in CPP.