GPR54 Gene Mutations in Iranian Girls with Central Familial Precocious Puberty

Kisspeptin /GPR54 signal pathway is a gate and regulator of activity of GnRH neurons and a key factor in initiation of puberty. Loss of function and gain of function mutations in GPR54 gene are associated with hypogonadotropic hypogonadism and central precocious puberty respectively. This study was designed to evaluate mutations of GPR54 gene in familial precocious puberty in Iran for the first time. This clinical-experimental study was held on 225 pediatric patients with precocious puberty who referred to the pediatric department of Imam Reza hospital (2009-2010). Among them, Twenty five pediatric patients who had central precocious puberty with positive familial history genomic were selected. Blood samples were taken for assessment. DNA was extracted and by the means of polymerase chain reaction (PCR), it was amplified and sequenced directly. Data were analyzed by using of Sequencher software. In this study no mutations were found in GPR54 gene while three types of polymorphism: rs10407968 (c.24A>G) in 52% of patients, rs3050132 (c.1091T>A) in 64% and a novel polymorphism c.492C>G in one patient (4%) was distinguished. Polymorphism was found in maximum of the patients with central precocious puberty in this study.