Kallmann's syndrome with a novel missense mutation in the KAL1 gene that modifies the major cell adhesion site of the anosmin-1 protein

J Pediatr Endocrinol Metab. 2005 Jun;18(6):545-8. doi: 10.1515/jpem.2005.18.6.545.

Abstract

Kallmann's syndrome (KS) refers to the association of hypogonadic hypogonadism and anosmia or hyposmia. The X-linked form of the disease is due to mutations in the KAL1 gene that encodes for the protein anosmin-1. We studied the KAL1 gene in a patient with KS and his family by PCR amplification and direct sequencing. A novel missense mutation (V263G) that modifies the major cell adhesion site of the anosmin-1 protein was identified. Our results suggest that this reported mutation is responsible for KS and might help to elucidate the function of an important area of the anosmin-1 protein.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Amino Acid Substitution
  • Binding Sites
  • Cell Adhesion Molecules / metabolism
  • DNA / genetics
  • Extracellular Matrix Proteins / genetics*
  • Extracellular Matrix Proteins / metabolism*
  • Fibronectins / metabolism
  • Fibronectins / physiology
  • Humans
  • Kallmann Syndrome / genetics*
  • Kallmann Syndrome / pathology
  • Kallmann Syndrome / physiopathology
  • Magnetic Resonance Imaging
  • Male
  • Mutation, Missense / genetics*
  • Mutation, Missense / physiology
  • Nerve Tissue Proteins / genetics*
  • Nerve Tissue Proteins / metabolism*
  • Reverse Transcriptase Polymerase Chain Reaction

Substances

  • ANOS1 protein, human
  • Cell Adhesion Molecules
  • Extracellular Matrix Proteins
  • Fibronectins
  • Nerve Tissue Proteins
  • DNA