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

• DOI: 10.1038/353529a0
• Publication Date: 2003-06-12T23:15:31Z
• Authors: Brunella Franco; Silvana Guioli; Antonella Pragliola; Barbara Incerti; Barbara Bardoni; Rossana Tonlorenzi; Romeo Carrozzo; Elena Maestrini; Maura Pieretti; Patricia Taillon-...; Carolyn J. Brown; Huntington F. Wil...; Charles Lawrence; M. Graziella Persico; Giovanna Camerino; Andrea Ballabio
• Keywords: neuronal migration; 570; Extracellular Matrix Proteins; X Chromosome; Base Sequence; Hypogonadism; Molecular Sequence Data; Restriction Mapping; Kallmann syndrome; Nerve Tissue Proteins; Syndrome; Nervous System; Polymerase Chain Reaction; Olfaction Disorders; Cell Movement; Dosage Compensation, Genetic; 616; Humans; Chromosome Deletion; Cloning, Molecular; Cell Adhesion Molecules; neural cell adhesion

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.