hrp0094p1-190 | Pituitary B | ESPE2021

Six novel variants in the MKRN3 gene causing central precocious puberty: characteristics of ten patients and their affected relatives

Gernay Caroline , Brachet Cecile , Tenoutasse Sylvie , Boros Emese , Libioulle Cecile , Heinrichs Claudine ,

Background: In 2013, Abreu et al identified loss-of function mutation in the MKRN3 gene of fifteen patients from five families with idiopathic central precocious puberty (iCPP), highlighting the implication of this maternally imprinted gene in this still poorly understood condition. Since this study, other mutations have been described and now represent the most common genetic cause of iCPP.Objective: The objective of th...