Unit:
Τομέας Υγείας - Μητέρας - ΠαιδιούLibrary of the School of Health Sciences
Dissertation committee:
Χριστίνα Κανακά-Gantenbein, Γεώργιος Χρούσος, Εμμανουήλ Ζουμάκης
Original Title:
Κλινική και μοριακή μελέτη παιδιών με διαταραχές ενήβωσης (Έλεγχος σχετικών γονιδιακών επιτόπων - γονίδιο GPR54)
Translated title:
Molecular and clinical investigation of children with disorders of puberty (GPR54 gene and relevant genes)
Summary:
Background: 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. 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 analysed for GPR54
and TACR3 genes mutations. Results: No GPR54 or TACR3 mutations were found. The
A/G coding sequence 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 probable to have a pathogenic
role in exon splicing and therefore in the premature initiation of puberty.
Keywords:
GPR54, TACR3, Puberty, Idiopathic central precocious puberty, SNP
Number of references:
524
