Familial central precocious puberty due to DLK1 deficiency: novel genetic findings and relevance of serum DLK1 levels.

Luciana Ribeiro MontenegroCarlos SeraphimFlávia TinanoMaiara PiovesanAna P M CantonKen McElreaveySeverine BrabantNatalia P BorisMelissa MagnusonRona S CarrollUrsula B Kaiser Jesús ArgenteVicente BarriosVinicius N BritoRaja Brauner Ana Claudia L Xavier

Published in: European journal of endocrinology (2023)

Novel loss-of-function mutations in DLK1 gene were identified in two French girls with CPP. Additionally, we demonstrated a pattern of dynamic changes in circulating DLK1 serum levels in humans and mice during pubertal stages, reinforcing the role of this factor in pubertal timing.

Keyphrases

genome wide
copy number
early onset
gene expression
high fat diet induced
metabolic syndrome
insulin resistance