title: Absence of GPR54 and TACR3 mutations in sporadic cases of idiopathic central precocious puberty.
abstract: OBJECTIVE
  Kisspeptin (KISS1)/GPR54 (KISSR) signaling complex and neurokinin B (NKB)/NKB receptor (TACR3) signaling have been proposed as an integral part of the network coordinating GnRH release. GPR54 (KISS1R) and TACR3 gene mutations have been described in cases of idiopathic hypogonadotrophic hypogonadism, while limited data exist on gain-of-function mutation in GPR54 (KISS1R) gene causing idiopathic central precocious puberty (ICPP). No data on TACR3 mutations in ICPP have been described so far. The aim of this study was to elucidate the possible impact of GPR54 (KISS1R) and TACR3 mutations in ICPP.
  
  
  METHODS
  PCR-amplified genomic DNA of 38 girls with ICPP was analyzed for GPR54 and TACR3 gene mutations.
  
  
  RESULTS
  No GPR54 or TACR3 mutations were found. The A/G coding sequence single nucleotide polymorphism (SNP) on the GPR54 gene (dbSNP ID: rs10407968) was found in 2 patients with ICPP.
  
  
  CONCLUSIONS
  Our data indicate that GPR54 and TACR3 gene mutations are not a frequent cause of ICPP. The identified A/G synonymous SNP (dbSNP ID: rs10407968) located in exon 1 of the gene is not likely to have a pathogenic role in exon splicing and therefore in the premature initiation of puberty.
authors.affiliation: Division of Endocrinology, Metabolism and Diabetes, 1st Department of Pediatrics, University of Athens, Aghia Sophia Children's Hospital, Athens, Greece.
authors.forename: Sofia
authors.initials: S
authors.lastname: Leka-Emiri
authors.forename: Eirini
authors.initials: E
authors.lastname: Louizou
authors.forename: Marios
authors.initials: M
authors.lastname: Kambouris
authors.forename: George
authors.initials: G
authors.lastname: Chrousos
authors.forename: Nicolas
authors.initials: N
authors.lastname: De Roux
authors.forename: Christina
authors.initials: C
authors.lastname: Kanaka-Gantenbein
mesh_terms: D002648:Child; D005091:Exons; D005260:Female; D006801:Humans; D009154:Mutation; D011629:Puberty, Precocious / Q000235:genetics* / Q000378:metabolism; D012326:RNA Splicing / Q000235:genetics*; D043562:Receptors, G-Protein-Coupled / Q000235:genetics* / Q000378:metabolism; D000074502:Receptors, Kisspeptin-1; D018039:Receptors, Tachykinin / Q000235:genetics* / Q000378:metabolism
chemical_list: C118688:KISS1R protein, human; D043562:Receptors, G-Protein-Coupled; D000074502:Receptors, Kisspeptin-1; D018039:Receptors, Tachykinin