A missense mutation in MKRN3 in a Danish girl with central precocious puberty and her brother with early puberty

Pediatric Research
Johanna KänsäkoskiJohanna Tommiska

Abstract

Idiopathic central precocious puberty (ICPP) results from the premature reactivation of the hypothalamic-pituitary-gonadal axis leading to development of secondary sexual characteristics prior to 8 y in girls or 9 y in boys. Since the initial discovery of mutations in the maternally imprinted MKRN3 gene in 2013, several case reports have described mutations in this gene in ICPP patients from different populations, highlighting the importance of MKRN3 as a regulator of pubertal onset. We screened 29 Danish girls with ICPP for mutations in MKRN3. Expression of MKRN3 in human hypothalamic complementary DNA (cDNA) was investigated by PCR. One paternally inherited rare variant, c.1034G>A (p.Arg345His), was identified in one girl with ICPP and in her brother with early puberty. The variant is predicted to be deleterious by three different in silico prediction programs. Expression of MKRN3 was confirmed in adult human hypothalamus. Our results are in line with previous studies in which paternally inherited MKRN3 mutations have been found both in males and in females with ICPP or early puberty. Our report further expands the set of MKRN3 mutations identified in ICPP patients across diverse populations, thus supporting the major regulat...Continue Reading

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Citations

Mar 31, 2016·European Journal of Endocrinology·Tero VarimoTaneli Raivio
Sep 15, 2016·BMC Endocrine Disorders·Adélaïde DurandRaja Brauner
Sep 20, 2016·The Journal of Pediatrics·Mihaela S Dimitrova-MladenovaRadka S Tincheva
Nov 1, 2016·Hormone Research in Pædiatrics·Enver SimsekBirgul Kırel
Mar 10, 2018·Journal of Neuroendocrinology·C A ToroA Lomniczi
Dec 9, 2016·Hormone Research in Pædiatrics·Nelmar Valentina Ortiz-CabreraLeandro Soriano-Guillén
Nov 7, 2019·International Journal of Endocrinology·Ting ChenFei Xiao
Jan 25, 2019·Human Genome Variation·Erina SuzukiMaki Fukami
Jan 31, 2017·Endocrine·Athanasios ChristoforidisLeonidas A Phylactou
Feb 26, 2019·Frontiers in Endocrinology·Venkatram YellapragadaTaneli Raivio
May 2, 2019·Journal of the Endocrine Society·Luciana Pinto ValadaresAdriana Lofrano-Porto
May 27, 2017·Human Genome Variation·Junko NishiokaYasutoshi Koga
Nov 21, 2020·Pediatric Research·Tero VarimoTaneli Raivio
Oct 12, 2021·Frontiers in Endocrinology·Vassos NeocleousLeonidas A Phylactou
Oct 1, 2018·Hormone Research in Pædiatrics·Anna GrandoneEmanuele Miraglia Del Giudice
Feb 8, 2019·Neuroendocrinology·Carlos Francisco AylwinAlejandro Lomniczi

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