Genes mutated in IHH have critical roles in GnRH neuron ontogeny and physiology. See the text for details. KAL1, Kallmann syndrome 1 sequence, MIM: 308700; FGFR1, fibroblast growth factor receptor 1, MIM: 136350; FGF8, fibroblast growth factor 8, MIM: 600483; PROK2, prokineticin 2, MIM: 607002; PROKR2, prokineticin receptor 2, MIM: 607123; CHD7, chromodomain helicase DNA binding protein 7, MIM: 608765; NELF, nasal embryonic LHRH factor, MIM: 608137; DAX1, dosage-sensitive sex reversal, adrenal hypoplasia congenital (AHC) critical region on the X chromosome, gene 1, MIM: 300473; PC1, prohormone convertase 1, MIM: 162150; LEP, leptin, MIM: 164160; LEPR, leptin receptor, MIM: 601007; KISS1R, KISS1 receptor, MIM: 604161; TAC3, tachykinin 3, MIM: 162330; TACR3, tachykinin receptor 3, MIM: 162332; GNRH1, gonadotropin-releasing hormone 1, MIM: 152760; GNRHR, GnRH receptor, MIM: 138850.
CREDIT: C. BICKEL/SCIENCE TRANSLATIONAL MEDICINE