Channelpedia

PubMed 25156905


Referenced in Channelpedia wiki pages of: none

Automatically associated channels: Kir6.2



Title: The first mutation in CNGA2 in two brothers with anosmia.

Authors: H G Karstensen, Y Mang, T Fark, T Hummel, N Tommerup

Journal, date & volume: Clin. Genet., 2015 Sep , 88, 293-6

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/25156905


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.