Central precocious puberty that appears to be sporadic caused by paternally inherited mutations in the imprinted gene makorin ring finger 3.

@article{Macedo2014CentralPP,
  title={Central precocious puberty that appears to be sporadic caused by paternally inherited mutations in the imprinted gene makorin ring finger 3.},
  author={Delanie Bulc{\~a}o Macedo and Ana Paula Abreu and Ana Cl{\'a}udia S Reis and Luciana Ribeiro Montenegro and Andrew Dauber and Daiane Beneduzzi and Priscilla Cukier and Let{\'i}cia Ferreira Gontijo Silveira and Milena Gurgel Teles and Rona S. Carroll and Gil Guerra Junior and Guilherme Guaragna Filho and Zoran S. Gucev and Ivo Jorge Prado Arnhold and Margaret de Castro and Ayrton Cust{\'o}dio Moreira and Carlos Eduardo Martinelli and Joel Hirschhorn and Berenice B Mendonca and Vin{\'i}cius Nahime de Brito and Sonir Roberto Rauber Antonini and Ursula Brigitte Kaiser and Ana Claudia Latronico},
  journal={The Journal of clinical endocrinology and metabolism},
  year={2014},
  volume={99 6},
  pages={E1097-103}
}
CONTEXT Loss-of-function mutations in makorin ring finger 3 (MKRN3), an imprinted gene located on the long arm of chromosome 15, have been recognized recently as a cause of familial central precocious puberty (CPP) in humans. MKRN3 has a potential inhibitory effect on GnRH secretion. OBJECTIVES The objective of the study was to investigate potential MKRN3 sequence variations as well as copy number and methylation abnormalities of the 15q11 locus in patients with apparently sporadic CPP… CONTINUE READING

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An update on the genetic causes of central precocious puberty

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