Central Precocious Puberty Caused by a Heterozygous Deletion in the MKRN3 Promoter Region.

Neuroendocrinology
Delanie B MacedoAna Claudia Latronico

Abstract

Loss-of-function mutations in the coding region of MKRN3, a maternally imprinted gene at chromosome 15q11.2, are a common cause of familial central precocious puberty (CPP). Whether MKRN3 alterations in regulatory regions can cause CPP has not been explored to date. We aimed to investigate potential pathogenic variants in the promoter region of MKRN3 in patients with idiopathic CPP. A cohort of 110 patients with idiopathic CPP was studied. Family history of precocious sexual development was present in 25%. Mutations in the coding region of MKRN3 were excluded in all patients. Genomic DNA was extracted from peripheral blood leukocytes, and 1,100 nucleotides (nt) of the 5'-regulatory region of MKRN3 were amplified and sequenced. Luciferase assays were performed in GT1-7 cells transiently transfected with plasmids containing mutated and wild-type MKRN3 promoter. We identified a rare heterozygous 4-nt deletion (c.-150_-147delTCAG; -38 to -41 nt upstream to the transcription start site) in the proximal promoter region of MKRN3 in a girl with CPP. In silico analysis predicted that this deletion would lead to the loss of a binding site for a downstream res-ponsive element antagonist modulator (DREAM), a potential transcription factor ...Continue Reading

Citations

Jun 2, 2020·The Journal of Clinical Endocrinology and Metabolism·Brooke N MeaderAngela Delaney
Aug 29, 2019·Archives of Endocrinology and Metabolism·Ana Pinheiro Machado CantonAna Claudia Latronico
May 2, 2019·Journal of the Endocrine Society·Luciana Pinto ValadaresAdriana Lofrano-Porto
Oct 23, 2018·NPJ Genomic Medicine·Rahul GajbhiyeGrant W Montgomery
Jan 1, 2021·The Journal of Clinical Endocrinology and Metabolism·Carlos Eduardo SeraphimAna Claudia Latronico
Oct 12, 2021·Frontiers in Endocrinology·Vassos NeocleousLeonidas A Phylactou

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