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Clin Genet. 2015 Sep;88(3):293-6. doi: 10.1111/cge.12491. Epub 2014 Oct 14.

The first mutation in CNGA2 in two brothers with anosmia.

Author information

1
Willhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, The Faculty of Health Sciences, The University of Copenhagen, DK-2200, Copenhagen N, Denmark.
2
Interdisciplinary Center for Smell & Taste, Department of Otorhinolaryngology, Technical University of Dresden Medical School, 01307, Dresden, Germany.

Abstract

Isolated congenital anosmia (ICA) is a rare disorder, where otherwise healthy individuals present with an inability to smell since birth. A list of studies have described the genes involved in syndromic anosmia; however, the genetics of ICA is still in its infancy. Studies in mice show that the cyclic nucleotide-gated channel subunit CNGA2, expressed in the olfactory epithelium has a crucial role in olfactory signal transduction. We have identified a novel X-linked stop mutation in CNGA2 (c.634C>T, p.R212*) in two brothers with ICA using exome sequencing. No additional mutations in CNGA2 were identified in a cohort of 31 non-related ICA individuals. Magnetic resonance brain imaging revealed diminished olfactory bulbs and flattened olfactory sulci. This is the first report of a mutation in the cyclic nucleotide-gated gene CNGA2 and supports the critical role of this gene in human olfaction.

KEYWORDS:

cyclic nucleotide-gated channel alpha 2; first mutation; isolated congenital general anosmia; olfaction

PMID:
25156905
DOI:
10.1111/cge.12491
[Indexed for MEDLINE]

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