期刊
CLINICAL GENETICS
卷 88, 期 3, 页码 293-296出版社
WILEY-BLACKWELL
DOI: 10.1111/cge.12491
关键词
cyclic nucleotide-gated channel alpha 2; first mutation; isolated congenital general anosmia; olfaction
资金
- Lundbeck Foundation
- Faroese Research Council
- Chevron
- EIK bank
- Lundbeck Foundation [R13-2007-1172, R32-2008-2947] Funding Source: researchfish
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.
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