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Chemical Senses Advance Access published online on September 28, 2006
Chemical Senses, doi:10.1093/chemse/bjl032
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© The Author 2006. Published by Oxford University Press. All rights reserved. For permissions, please e-mail: journals.permissions@oxfordjournals.org
Accepted September 4, 2006

Article

Mutations in Olfactory Signal Transduction Genes Are Not a Major Cause of Human Congenital General Anosmia

Ester Feldmesser 1, Dani Bercovich 2, Nili Avidan 3, Shmuel Halbertal 4, Liora Haim 1, Ruth Gross-Isseroff 5, Sivan Goshen 6, and Doron Lancet 1 *

1 Department of Molecular Genetics, Weizmann Institute of Science, Rehovot, Israel
2 Department of Human Molecular Genetics & Pharmacogenetics, MIGAL-Galilee Technology Center, Kiryat Shmona, Israel
3 Department of Molecular Genetics, Weizmann Institute of Science, Rehovot, Israel; Present address: Department of Internal Medicine, University of Texas Health Science Center, Houston, TX 77030, USA
4 Department of Otolaryngology-Head and Neck Surgery, Kaplan Medical Center, Rehovot, Israel
5 Department of Molecular Genetics, Weizmann Institute of Science, Rehovot, Israel; Outpatient Department and Research Unit, Geha Mental Health Center, Petach Tikva, Israel
6 Department of Otorhinolaryngology & Head and Neck Surgery, Meir Hospital, Kfar-Saba, Israel

* To whom correspondence should be addressed.
Doron Lancet, E-mail: doron.lancet{at}weizmann.ac.il


  Abstract

Anosmia affects the western world population, mostly the elderly, reaching to 5% in subjects over the age of 45 years and strongly lowering their quality of life. A smaller minority (about 0.01%) is born without a sense of smell, afflicted with congenital general anosmia (CGA). No causative genes for human CGA have been identified yet, except for some syndromic cases such as Kallman syndrome. In mice, however, deletion of any of the 3 main olfactory transduction components (guanidine triphosphate binding protein, adenylyl cyclase, and the cyclic adenosine monophosphate-gated channel) causes profound reduction of physiological responses to odorants. In an attempt to identify human CGA-related mutations, we performed whole-genome linkage analysis in affected families, but no significant linkage signals were observed, probably due to the small size of families analyzed. We further carried out direct mutation screening in the 3 main olfactory transduction genes in 64 unrelated anosmic individuals. No potentially causative mutations were identified, indicating that transduction gene variations underlie human CGA rarely and that mutations in other genes have to be identified. The screened genes were found to be under purifying selection, suggesting that they play a crucial functional role not only in olfaction but also potentially in additional pathways.

Keywords: anosmia; CNGA2; GNAL. ADCY3; linkage analysis; SNP.
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