ESPE Abstracts (2018) 89 P-P2-336

ESPE2018 Poster Presentations Pituitary, Neuroendocrinology and Puberty P2 (37 abstracts)

A Novel Mutation in 5’; Untranslation Region of Makorin Ring Finger 3 Gene Associated with the Familial Precocious Puberty

Wenli Lu a , Junqi Wang a , Chuanyin Li b , Ronggui Hu b & Wei Wang a

aDepartment of Pediatric, Ruijin Hospital Affiliated with Shanghai Jiao Tong University, Shanghai, China; bState Key Laboratory of Molecular Biology, CAS Center for Excellence in Molecular Cell Science, Innovation Center for Cell Signaling Network; Shanghai Institute of Biochemistry and Cell Biology, Chinese Academy of Sciences, Shanghai, China

Central precocious puberty (CPP) is the endocrine disorder triggering by many factors those can activate the hypothalamic-pituitary-gonadal axis early which controlled GnRH secretion. However, the mechanism of CPP has not been elucidated. The study of patients with familial CPP helped understanding the complex physiological processes. Recently, loss-of-function mutations in human Makorin ring finger protein 3 (MKRN3) were found to contribute to over 30% of cases of familial CPP. Here we reported a novel mutation of MKRN3 in 5’ untranslation region of a boy with familial CPP, and we identified that this mutation cause the reduction of serum MKRN3 which consistent with clinical manifestation. Our study not only further expand the mutational spectrum of MKRN3 but also confirm imprinted inheritance in male patients with familial CPP.

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