Loss-of-function variants in SEMA3F and PLXNA3 encoding semaphorin-3F and its receptor plexin-A3 respectively cause idiopathic hypogonadotropic hypogonadism.

Leman Damla KotanGaetan TernierAydilek Dagdeviren CakirHamdi Cihan EmeksizIhsan TuranGaspard DelpouveAsli Derya KardelenBahar OzcabiEmregul IsikEda MengenEsra Deniz P CakirAysegul YukselSebahat Yilmaz AgladiogluSemine Ozdemir DilekOlcay EvliyaogluFeyza DarendelilerFatih GurbuzGamze AkkusBilgin YukselPaolo GiacobiniAli Kemal Topaloğlu

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2021)

SEMA3F signaling through PLXNA1-A3 is involved in the guidance of GnRH neurons and of olfactory and vomeronasal nerve fibers in humans. Overall, our findings suggest that Semaphorin-3F signaling insufficiency contributes to the pathogenesis of IHH.

Keyphrases

spinal cord
copy number
gene expression
dna methylation