GnRH Deficient Patients With Congenital Hypogonadotropic Hypogonadism: Novel Genetic Findings in ANOS1, RNF216, WDR11, FGFR1, CHD7, and POLR3A Genes in a Case Series and Review of the Literature
Vassos Neocleous, Pavlos Fanis, Meropi Toumba, George A. Tanteles, Melpo Schiza, Feride Cinarli, Nicolas C. Nicolaides, Anastasis Oulas, George M. Spyrou, Christos S. Mantzoros, Dimitriοs Vlachakis, Nicos Skordis, Leonidas A. Phylactou
Abstract
This report embraces the description of novel and previously reported rare pathogenic variants in a series of genes known to be implicated in the biological development of CHH. Notably, patients with CHH can harbor pathogenic rare variants in more than one gene which raises the hypothesis of locus-locus interactions providing evidence for digenic inheritance. The identification of such aberrations by NGS can be very informative for the management and future planning of these patients.
Topics & Concepts
Hypogonadotropic hypogonadismKallmann syndromeGeneticsExome sequencingGeneLocus (genetics)BiologyIn silicoGNRHRDisease gene identificationExomeCandidate geneBioinformaticsMutationMedicineDiseaseGonadotropin-releasing hormoneInternal medicineEndocrinologyHormoneLuteinizing hormoneInfectious disease (medical specialty)Coronavirus disease 2019 (COVID-19)Congenital Ear and Nasal AnomaliesHypothalamic control of reproductive hormonesGenomic variations and chromosomal abnormalities