Isolated and syndromic forms of congenital anosmia

Authors

  • HG Karstensen,

    1. Department of Cellular and Molecular Medicine, The Faculty of Health Sciences, The University of Copenhagen, Copenhagen N, Denmark
    Search for more papers by this author
  • N Tommerup

    Corresponding author
    1. Department of Cellular and Molecular Medicine, The Faculty of Health Sciences, The University of Copenhagen, Copenhagen N, Denmark
      Niels Tommerup, Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, The Faculty of Health Sciences, The University of Copenhagen, Building 24.4, Blegdamsvej 3, DK-2200 Copenhagen N, Denmark.
      Tel.: +45 35327826;
      fax: +45 35327845;
      e-mail: ntommerup@sund.ku.dk
    Search for more papers by this author

Niels Tommerup, Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, The Faculty of Health Sciences, The University of Copenhagen, Building 24.4, Blegdamsvej 3, DK-2200 Copenhagen N, Denmark.
Tel.: +45 35327826;
fax: +45 35327845;
e-mail: ntommerup@sund.ku.dk

Abstract

Karstensen HG, Tommerup N. Isolated and syndromic forms of congenital anosmia.

Loss of smell (anosmia) is common in the general population and the frequency increases with age. A much smaller group have no memory of ever being able to smell and are classified as having isolated congenital anosmia (ICA). Families are rare, and tend to present in a dominant inheritance pattern. Despite a strong degree of heritability, no human disease-causing mutations have been identified. Anosmia is part of the clinical spectrum in various diseases, as seen in Kallmann syndrome, various ciliopathies and congenital insensitivity to pain. This review will focus on ICA through already published families and cases as well as syndromes where anosmia is part of the clinical disease spectrum. Furthermore, olfactory signal transduction pathway genes and animal models may shed light on potential candidate genes and pathways involved in ICA.

Ancillary