Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice
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Idiopathic hypogonadotropic hypogonadism (IHH) with anosmia (Kallmann syndrome; KS) or with a normal sense of smell (normosmic IHH; nIHH) are heterogeneous genetic disorders associated with deficiency of gonadotropin-releasing hormone (GnRH). While loss-of-function mutations in FGF receptor 1 (FGFR1) cause human GnRH deficiency, to date no specific ligand for FGFR1 has been identified in GnRH neuron ontogeny. Using a candidate gene approach, we identified 6 missense mutations in FGF8 in IHH probands with variable olfactory phenotypes. These patients exhibited varied degrees of GnRH deficiency, including the rare adult-onset form of hypogonadotropic hypogonadism. Four mutations affected all 4 FGF8 splice isoforms (FGF8a, FGF8b, FGF8e, and FGF8f), while 2 mutations affected FGF8e and FGF8f isoforms only. The mutant FGF8b and FGF8f ligands exhibited decreased biological activity in vitro. Furthermore, mice homozygous for a hypomorphic Fgf8 allele lacked GnRH neurons in the hypothalamus, while heterozygous mice showed substantial decreases in the number of GnRH neurons and hypothalamic GnRH peptide concentration. In conclusion, we identified FGF8 as a gene implicated in GnRH deficiency in both humans and mice and demonstrated an exquisite sensitivity of GnRH neuron development to reductions in FGF8 signaling.
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Mutations in FGF8 have been linked to Kallmann syndrome.
“Mutations in the gene FGF8, which encodes one of the many ligands of FGFR-1, have recently been linked to Kallmann syndrome.”
From The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism (2009) · cites this paper as [20]
The link between FGF8 mutations and Kallmann syndrome suggests that FGF-8 is the FGFR-1 ligand responsible for GnRH neuronal development and/or migration.
“This finding suggests that FGF-8 is the FGFR-1 ligand responsible for GnRH neuronal development and/or migration.”
From The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism (2009) · cites this paper as [20]
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- Authors
- Falardeau, J., Chung, W. C. J., Beenken, A., Raivio, T., Plummer, L., Sidis, Y., Jacobson-Dickman, E. E., Eliseenkova, A. V., Ma, J., Dwyer, A., Quinton, R., Na, S., Hall, J. E., Huot, C., Alois, N., Pearce, S. H. S., Cole, L. W., Hughes, V., Mohammadi, M., Tsai, P., & Pitteloud, N.
- Affiliations
- Harvard University (US)
- University of Colorado Boulder (US)
- New York University (US)
- Newcastle University (GB)
- Centre Hospitalier Universitaire Sainte-Justine (CA)
- Corresponding author
- Pitteloud, Nelly
- ORCID
- Venue
- Journal of Clinical Investigation
- Published
- 2008-08-01
- Volume
- 118
- Issue
- 8
- Pages
- 2822-2831
- ISSN
- 0021-9738 (ISSN-L)
- PMC
- PMC2441855
- OpenAlex
- W2101121629
- Cited by
- 397
- References
- 59
- Citations by year
- 2026: 4 · 2025: 8 · 2024: 11 · 2023: 11 · 2022: 17 · 2021: 16 · 2020: 17 · 2019: 24 · 2018: 13 · 2017: 19 · 2016: 28 · 2015: 27 · 2014: 27 · 2013: 32 · 2012: 25
- FWCI
- 44.77
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Journal of Clinical Investigation (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Newcastle University ePrints (Newcastle Univesity)
- Funders
- Lastentautien Tutkimussäätiö
- Helsingin Sanomain Säätiö
- National Institutes of Health
- National Institute of Dental and Craniofacial Research (R01DE013686, R01 DE13686-08)
- National Center for Research Resources (M01RR001066)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (R01HD015788, R01HD042708, U54HD028138)
- Topics
- Health Sciences › Medicine › Reproductive Medicine › Hypothalamic control of reproductive hormones
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Fibroblast Growth Factor Research
- Keywords
- FGF8, FGF8b, gonadotropin-releasing hormone deficiency, idiopathic hypogonadotropic hypogonadism, Kallmann syndrome, anosmia, hypothalamus, FGF signaling, missense mutations
- MeSH terms
- Adult, Animals, Olfaction Disorders, Female, Heterozygote, Humans, Hypogonadism, Gonadotropin-Releasing Hormone, Male, Mice, Transgenic, Models, Molecular, Mutation, Neurons, Pedigree, Cohort Studies, Signal Transduction, Case-Control Studies, Kallmann Syndrome, Mice, Fibroblast Growth Factor 8
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