Molecular screening of PROKR2 gene in girls with idiopathic central precocious puberty
| Autor: | Gianluca Tornese, Giuseppina Rosaria Umano, Emanuele Miraglia del Giudice, Francesca Aiello, Raffaella Di Mase, Alessandra Cassio, Anna Grandone, Grazia Cirillo |
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| Přispěvatelé: | Aiello F, Cirillo G, Cassio A, Di Mase R, Tornese G, Umano GR, Miraglia Del Giudice E, Grandone A., Aiello, F., Cirillo, G., Cassio, A., Di Mase, R., Tornese, G., Umano, G. R., Miraglia del Giudice, E., Grandone, A. |
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
0301 basic medicine
medicine.medical_specialty Receptors Peptide PROKR2 Puberty Precocious 030209 endocrinology & metabolism Receptors G-Protein-Coupled Cohort Studies 03 medical and health sciences Basal (phylogenetics) symbols.namesake 0302 clinical medicine Hypogonadotropic hypogonadism Polymorphism (computer science) Internal medicine Genetic screening medicine Humans Genetic Testing Allele frequency Fisher's exact test Loss function Polymorphism Genetic business.industry Research lcsh:RJ1-570 Infant Prokineticin receptor 2 lcsh:Pediatrics medicine.disease Early central precocious puberty Minor allele frequency 030104 developmental biology Endocrinology Italy Child Preschool Mutation symbols Female business |
| Zdroj: | Italian Journal of Pediatrics Italian Journal of Pediatrics, Vol 47, Iss 1, Pp 1-5 (2021) |
| Popis: | Background Prokineticin receptor 2 (PROKR2) loss of function mutations have been described as cause of hypogonadotropic hypogonadism. In 2017, a first case of central precocious puberty (CPP) caused by PROKR2 heterozygous gain of function mutation was described in a 3.5 years-old girl. No other cases have been reported yet. This study performs a molecular screening in girls with early onset CPP (breast budding before 6 years of age) to identify possible alterations in PROKR2. Methods We analysed DNA of 31 girls with idiopathic CPP diagnosed via basal LH levels > 0.3 IU/L or peak-LH > 5 IU/L after stimulation, without any MKRN3 mutations. The Fisher exact test was used to compare polymorphism allele frequency to corresponding ones in genome aggregation database (gnomAD). Results No rare variants were identified. Five polymorphisms were found (rs6076809, rs8116897, rS3746684, rs3746682, rs3746683). All except one (i.e. rs3746682) had a minor allele frequency (MAF) similar to that reported in literature. rs3746682 presented a MAF higher than that described in the gnomAD (0.84 in our cohort vs 0.25 from gnomAD). Conclusions As for other G protein-coupled receptors (i.e. GPR54), mutations in PROKR2 do not seem to be a frequent cause of CPP in girls. |
| Databáze: | OpenAIRE |
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