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Background  Pubertal timing is a strongly heritable trait, but no single puberty gene has been identified. Thus, the genetic background of idiopathic central precocious puberty (ICPP) is poorly understood. Overall, the genetic modulation of pubertal onset most likely arises from the additive effect of multiple genes, but also monogenic causes of ICPP probably exist, as cases of familial ICPP have been reported. Mutations in  KISS1  and  KISSR , coding for kisspeptin and its receptor, involved in GnRH secretion and puberty onset, have been suggested causative for monogenic ICPP. Variation in  LIN28B  was associated with timing of puberty in genome-wide association (GWA) studies.  LIN28B  is a human ortholog of the gene that controls, through microRNAs, developmental timing in  C. elegans . In addition,  Lin28a  transgenic mice manifest the puberty phenotypes identified in the human GWAS. Thus, both  LIN28B  and  LIN28A  may have a role in pubertal development and are good candidate genes for monogenic ICPP.    Methods  Thirty girls with ICPP were included in the study. ICPP was defined by pubertal onset before 8 yrs of age, and a pubertal LH response to GnRH testing. The coding regions of  LIN28B, LIN28A, KISS1 , and  KISS1R  were sequenced. The missense change in  LIN28B  was also screened in 132 control subjects.    Results  No rare variants were detected in  KISS1  or  KISS1R  in the 30 subjects with ICPP. In  LIN28B , one missense change, His199Arg, was found in one subject with ICPP. However, this variant was also detected in one of the 132 controls. No variation in  LIN28A  was found.    Conclusions  We did not find any evidence that mutations in  LIN28B  or  LIN28A  would underlie ICPP. In addition, we confirmed that mutations in  KISS1  and  KISS1R  are not a common cause for ICPP.

LIN28B, LIN28A, KISS1, and KISS1R in idiopathic central precocious puberty