Kallmann’s syndrome, a neuronal migration defect
Open accessAbstract
Infertility and inability to smell are the phenotypical features of Kallmann's syndrome (KS), a genetic disease which affects 1 in 10,000 males and 1 in 50,000 females, the majority of the cases being sporadic. The molecular pathogenesis of KS is complex but mainly referable to the impairment of olfactory axon development and of the migration of gonadotropin-releasing hormone (GnRH) neurons. Only two different genes have been identified so far as responsible for the disease: KAL1 and KAL2, encoding anosmin-1 and fibroblast growth factor receptor 1 (FGFR1), respectively. In this review we focus our attention on insights evoked by recent studies, which propose a new direct role for anosmin-1 in the migration GnRH neurons, and a fascinating hypothesis of interactions between anosmin-1 and FGFR1 systems.
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Other associated neurological and somatic abnormalities may segregate with the Kallmann syndrome phenotype, suggesting a common genetic origin of these abnormalities.
“Other associated neurological and somatic abnormalities, such as synkinesia, cerebellar ataxia, sensorineural deafness, mental retardation, unilateral renal agenesis and cleft palate, may segregate with the Kallmann syndrome phenotype, which suggests a common genetic origin of these abnormalities.”
From The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism (2009) · cites this paper as [3]
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The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism
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- Authors
- Cariboni, A., & Maggi, R.
- Affiliations
- University of Milan (IT)
- Corresponding author
- Maggi, R.
- Venue
- Cellular and Molecular Life Sciences
- Published
- 2006-09-04
- Volume
- 63
- Issue
- 21
- Pages
- 2512-2526
- ISSN
- 1420-682X (ISSN-L)
- 1420-9071
- PMC
- PMC11136178
- OpenAlex
- W2056008151
- Cited by
- 65
- References
- 143
- Citations by year
- 2026: 1 · 2025: 1 · 2024: 3 · 2022: 4 · 2021: 3 · 2020: 2 · 2019: 1 · 2018: 2 · 2017: 7 · 2015: 5 · 2014: 5 · 2013: 8 · 2012: 3
- FWCI
- 4.22
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Cellular and Molecular Life Sciences (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Reproductive Medicine › Hypothalamic control of reproductive hormones
- Life Sciences › Neuroscience › Sensory Systems › Olfactory and Sensory Function Studies
- Life Sciences › Neuroscience › Developmental Neuroscience › Neurogenesis and neuroplasticity mechanisms
- Keywords
- Kallmann syndrome, neuronal migration defects, anosmin-1, KAL1 gene, FGFR1, GnRH neurons, olfactory dysfunction, male infertility, genetic pathogenesis
- MeSH terms
- Cell Movement, Humans, Gonadotropin-Releasing Hormone, Nerve Tissue Proteins, Neurons, Extracellular Matrix Proteins, Kallmann Syndrome, Receptor, Fibroblast Growth Factor, Type 1
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