The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules

Legouis, Renaud; Hardelin, Jean-Pierre; Levilliers, Jacqueline; Claverie, Jean-Michel; Compain, Sylvia; Wunderle, Véronique; Millasseau, Philippe; Le Paslier, Denis; Cohen, Daniel; Caterina, Dominique

doi:10.1016/0092-8674(91)90193-3

Cited by 678Hypothalamic control of reproductive hormonesGenetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesOlfactory and Sensory Function Studies

The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules

Legouis, Renaud, Hardelin, Jean-Pierre, Levilliers, Jacqueline, Claverie, Jean-Michel, Compain, Sylvia, Wunderle, Véronique, Millasseau, Philippe, Le Paslier, Denis +2 more·1991·Cell

DOI 10.1016/0092-8674(91)90193-3

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Abstract

Kallmann syndrome associates hypogonadotropic hypogonadism and anosmia and is probably due to a defect in the embryonic migration of olfactory and GnRH-synthesizing neurons. The Kallmann gene had been localized to Xp22.3. In this study 67 kb of genomic DNA, corresponding to a deletion interval containing at least part of the Kallmann gene, were sequenced. Two candidate exons, identified by multiparameter computer programs, were found in a cDNA encoding a protein of 679 amino acids. This candidate gene (ADMLX) is interrupted in its 3' coding region in the Kallmann patient, in which the proximal end of the KAL deletion interval was previously defined. A 5' end deletion was detected in another Kallmann patient. The predicted protein sequence shows homologies with the fibronectin type III repeat. ADMLX thus encodes a putative adhesion molecule, consistent with the defect of embryonic neuronal migration.

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KAL1 is located on the X chromosome and encodes anosmin 1, an extracellular cell adhesion protein essential for axonal guidance and migration of olfactory and GnRH neurons from the nasal placode to the brain.
“KAL1 is located on the X chromosome and encodes an extracellular cell adhesion protein, anosmin 1, essential for axonal guidance and migration of olfactory and GnRH neurons from the nasal placode to their final location in the brain.”
From The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism (2009) · cites this paper as [7]
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 [7]
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 [7]

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Authors: Legouis, R., Hardelin, J.-P., Levilliers, J., Claverie, J.-M., Compain, S., Wunderle, V., Millasseau, P., Le Paslier, D., Cohen, D., & Caterina, D.
Affiliations: Centre National de la Recherche Scientifique (FR)
National Institutes of Health (US)
Fondation Jean Dausset-CEPH (FR)
ORCID: Legouis, Renaud
Hardelin, Jean-Pierre
Claverie, Jean-Michel
Cohen, Daniel
Venue: Cell
Publisher: Elsevier BV
Published: 1991-10-18
Volume: 67
Issue: 2
Pages: 423-435
ISSN: 0092-8674 (ISSN-L)
DOI: 10.1016/0092-8674(91)90193-3
OpenAlex: W2041713925
Cited by: 678
References: 79
Citations by year: 2026: 6 · 2025: 8 · 2024: 6 · 2023: 6 · 2022: 5 · 2021: 13 · 2020: 11 · 2019: 4 · 2018: 7 · 2017: 14 · 2016: 17 · 2015: 24 · 2014: 21 · 2013: 25 · 2012: 16
FWCI: 33.40
Type: journal article
Language: en
Open access: closed
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
Locations: Cell (publishedVersion)
PubMed (publishedVersion)
HAL (submittedVersion)
Funders: Santen
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 › Neuroscience › Sensory Systems › Olfactory and Sensory Function Studies
Keywords: Kallmann syndrome, candidate genes, adhesion molecules, fibronectin type III repeats, hypogonadotropic hypogonadism, anosmia, GnRH neurons, olfactory sensory neurons, neuronal migration defects
MeSH terms: Amino Acid Sequence, Olfaction Disorders, Base Sequence, Cell Line, Transformed, Chromosome Deletion, Cloning, Molecular, Exons, Fibroblasts, Fibronectins, Humans, Hypogonadism, Genetic Linkage, Milk Proteins, Molecular Sequence Data, Mutation, Nerve Tissue Proteins, Nucleotide Mapping, Repetitive Sequences, Nucleic Acid, Sequence Homology, Nucleic Acid, X Chromosome, Cell Adhesion Molecules, Gene Expression, Polymerase Chain Reaction, Extracellular Matrix Proteins

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The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules

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