A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules

Franco, Brunella; Guioli, Silvana; Pragliola, Antonella; Incerti, Barbara; Bardoni, Barbara; Tonlorenzi, Rossana; Carrozzo, Romeo; Maestrini, Elena; Pieretti, Maura; Taillon-Miller, Patricia; Brown, Carolyn J.; Willard, Huntington F.; Lawrence, Charles; Persico, M. Graziella; Camerino, Giovanna; Ballabio, Andrea

doi:10.1038/353529a0

Cited by 846Hypothalamic control of reproductive hormonesOlfactory and Sensory Function StudiesGenetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules

Franco, Brunella, Guioli, Silvana, Pragliola, Antonella, Incerti, Barbara, Bardoni, Barbara, Tonlorenzi, Rossana, Carrozzo, Romeo, Maestrini, Elena +8 more·1991·Nature

DOI 10.1038/353529a0

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Abstract

Kallmann's syndrome (clinically characterized by hypogonadotropic hypogonadism and inability to smell) is caused by a defect in the migration of olfactory neurons, and neurons producing hypothalamic gonadotropin-releasing hormone. A gene has now been isolated from the critical region on Xp22.3 to which the syndrome locus has been assigned: this gene escapes X inactivation, has a homologue on the Y chromosome, and shows an unusual pattern of conservation across species. The predicted protein has significant similarities with proteins involved in neural cell adhesion and axonal pathfinding, as well as with protein kinases and phosphatases, which suggests that this gene could have a specific role in neuronal migration.

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Mutations in KAL1 disrupt the migration of olfactory and GnRH neurons.
“Mutations in KAL1 disrupt the migration of olfactory and GnRH neurons”
From The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism (2009) · cites this paper as [9]
KAL1 mutations are present in approximately 5-10% of patients with Kallmann syndrome, with the highest prevalence in families with X-linked inheritance.
“Mutations in KAL1 disrupt the migration of olfactory and GnRH neurons and are reported to be present in approximately 5–10% of patients with Kallmann syndrome (Table 1),7,9–11 with the highest prevalence seen in families with X-linked inheritance patterns.”
From The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism (2009) · cites this paper as [9]

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Retracted
Kallmann's Syndrome and Idiopathic Hypogonadotropic Hypogonadism
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Congenital Hypogonadotropic Hypogonadism of Hypothalamic Origin
Rohayem, J., Tüttelmann, F., Nieschlag, E., & Behre, H. M. (2023) · Springer eBooks · doi:10.1007/978-3-031-31574-9_12 · Cited by 1 · see citing works

Authors: Franco, B., Guioli, S., Pragliola, A., Incerti, B., Bardoni, B., Tonlorenzi, R., Carrozzo, R., Maestrini, E., Pieretti, M., Taillon-Miller, P., Brown, C. J., Willard, H. F., Lawrence, C., Persico, M. G., Camerino, G., & Ballabio, A.
Affiliations: Baylor College of Medicine (US)
University of Pavia (IT)
Stanford Medicine (US)
Institute of Genetics and Biophysics (IT)
ORCID: Franco, Brunella
Guioli, Silvana
Bardoni, Barbara
Tonlorenzi, Rossana
Maestrini, Elena
Brown, Carolyn J.
Willard, Huntington F.
Ballabio, Andrea
Venue: Nature
Publisher: Springer Science and Business Media LLC
Published: 1991-10
Volume: 353
Issue: 6344
Pages: 529-536
ISSN: 0028-0836 (ISSN-L)
1476-4687
DOI: 10.1038/353529a0
OpenAlex: W2076924133
Cited by: 846
References: 69
Citations by year: 2026: 6 · 2025: 7 · 2024: 11 · 2023: 15 · 2022: 11 · 2021: 20 · 2020: 11 · 2019: 14 · 2018: 14 · 2017: 16 · 2016: 23 · 2015: 30 · 2014: 18 · 2013: 25 · 2012: 16
FWCI: 40.93
Type: journal article
Language: en
Open access: closed
Licence: www.springer.com/tdm (tdm)
Locations: Nature (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 › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Keywords: Kallmann syndrome, gene deletion, Xp22.3, GnRH neurons, hypogonadotropic hypogonadism, anosmia, X-inactivation escape, neuronal adhesion, axon guidance, protein kinases, protein phosphatase, neuronal migration
MeSH terms: Olfaction Disorders, Base Sequence, Cell Movement, Chromosome Deletion, Cloning, Molecular, Dosage Compensation, Genetic, Humans, Hypogonadism, Molecular Sequence Data, Nerve Tissue Proteins, Nervous System, Syndrome, X Chromosome, Restriction Mapping, Cell Adhesion Molecules, Polymerase Chain Reaction, Extracellular Matrix Proteins

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A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules

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