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hrp0089p2-p309 | Pituitary, Neuroendocrinology and Puberty P2 | ESPE2018

MKRN3 Gene Mutations in a Cohort of Patients with Central Precocious Puberty

Stefanija Magdalena Avbelj , Kovač Jernej , Yablonski Galia , Toromanović Alma , Stipančič Gordana , Milenković Tatjana , Jančevska Aleksandra , Zdravković Vera , Jesić Maja , Vuković Rade , Stanković Sandra , Todorović Sladana , Hovnik Tinka , Phillip Moshe , Battelino Tadej , de Vries Liat

Background: MKRN3 gene, encoding Makorin RING-finger protein 3, is a maternally imprinted gene located at a Prader-Willi syndrome region on chromosome 15q11.13. Deleterious mutations of MKRN3 gene are a common cause of paternally inherited central precocious puberty (CPP), being identified in 33-46% of familial cases and in about 5% and 40% of apparently sporadic female and male cases, respectively.Objectives: To evaluate the presence o...

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ePoster

hrp0094yi1.1 | Young Investigators | ESPE2021

Identification of novel genetic causes of familial central precocious puberty

Avbelj Stefanija Magdalena , Kovač Jernej , Gat-Yablonski Galia , Novak Eva , Hovnik Tinka , Toromanović Alma , Stipančič Gordana , Milenković Tatjana , Vuković Rade , Todorović Slađana , Jančevska Aleksandra , Zdravković Vera , Jesič Maja , Stanković Sandra , Phillip Moshe , Battelino Tadej , de Vries Liat

Introduction: The major genetic cause of CPP is the paternally inherited Makorin RING-finger protein 3 (MKRN3) deficiency. Rare patients carry variants in kisspeptin and its receptor and DLK1.Objectives: To identify genetic causes of CPP.Population and methods: MKRN3 Sanger sequencing was performed in 56 unrelated subjects (12 familial non-maternal, 44 sporadic (6 boys)), whole-ge...

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ESPE Abstracts

MKRN3 Gene Mutations in a Cohort of Patients with Central Precocious Puberty

Identification of novel genetic causes of familial central precocious puberty

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