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The first mutation in CNGA2 in two brothers with anosmia
Author(s) -
Karstensen H.G.,
Mang Y.,
Fark T.,
Hummel T.,
Tommerup N.
Publication year - 2015
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.12491
Subject(s) - anosmia , exome sequencing , genetics , mutation , olfaction , olfactory epithelium , biology , gene , olfactory system , neuroscience , medicine , disease , covid-19 , infectious disease (medical specialty)
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.