Τίτλος:
Absence of GPR54 and TACR3 mutations in sporadic cases of idiopathic central precocious puberty
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
Background/Aims: 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. Conclusion: 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. © 2014 S. Karger AG, Basel.
Συγγραφείς:
Leka-Emiri, S.
Louizou, E.
Kambouris, M.
Chrousos, G.
De Roux, N.
Kanaka-Gantenbein, C.
Περιοδικό:
Hormone Research in Paediatrics
Λέξεις-κλειδιά:
G protein coupled receptor 54; genomic DNA; protein; tacr3 protein; unclassified drug; G protein coupled receptor; KISS1R protein, human; tachykinin receptor, article; child; clinical article; DNA polymorphism; female; gene; gene mutation; gene sequence; genetic code; Gpr54 gene; Greece; human; idiopathic central precocious puberty; idiopathic disease; phenotypic variation; polymerase chain reaction; precocious puberty; priority journal; single nucleotide polymorphism; Tacr3 gene; Article; gain of function mutation; gene expression; gene frequency; idiopathic central precocious puberty; idiopathic disease; precocious puberty; RNA splicing; clinical trial; exon; genetics; metabolism; mutation; precocious puberty, Child; Exons; Female; Humans; Mutation; Puberty, Precocious; Receptors, G-Protein-Coupled; Receptors, Tachykinin; RNA Splicing
