ArticleScientific reports2017
Isolated Congenital Anosmia and CNGA2 Mutation.
Article in Scientific reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 26 citations in OpenAlex.
- Molecular Evidence for the Parallel Evolution of Anosmia in Multiple Odontoceti (Toothed Whales) Clades.Genes · 2026Article
- Structural Brain Changes in Patients with Congenital Anosmia: MRI-Based Analysis of Gray- and White-Matter Volumes.Diagnostics (Basel, Switzerland) · 2025Article
- Ion Channels in Odor Information Processing of Neural Circuits of the Vertebrate Olfactory Bulb.International journal of molecular sciences · 2024Review
- A Comparative Genomics Approach to Understanding the Evolution of Olfaction in Cetaceans.Journal of molecular evolution · 2024Article
- Identifying candidate genes underlying isolated congenital anosmia.Clinical genetics · 2024Article
- Matters Arising: Is congenital anosmia protective for Parkinson's disease triggered by pathogenic entrance through the nose?NPJ Parkinson's disease · 2023Article
- Is congenital anosmia protective for Parkinson's disease triggered by pathogenic entrance through the nose?NPJ Parkinson's disease · 2022Article
- International consensus statement on allergy and rhinology: Olfaction.International forum of allergy & rhinology · 2022Review
- An Extremely Rare Cause of Isolated Congenital Anosmia.Case reports in otolaryngology · 2022Article
- Single-molecule imaging with cell-derived nanovesicles reveals early binding dynamics at a cyclic nucleotide-gated ion channel.Nature communications · 2021Article
- Variable expressivity in patients with autosomal recessive retinitis pigmentosa associated with the geneOphthalmic genetics · 2021Article
- The cyclic AMP signaling pathway in the rodent main olfactory system.Cell and tissue research · 2021Review
- Olfactory Loss and Dysfunction in Ciliopathies: Molecular Mechanisms and Potential Therapies.Current medicinal chemistry · 2019Review
- Olfactory Dysfunction in Patients With CNGB1-Associated Retinitis Pigmentosa.JAMA ophthalmology · 2018Article
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 2 countries.
Funding
Abstract
Isolated congenital anosmia (ICA) is a rare condition that is associated with life-long inability to smell. Here we report a genetic characterization of a large Iranian family segregating ICA. Whole exome sequencing in five affected family members and five healthy members revealed a stop gain mutation in CNGA2 (OMIM 300338) (chrX:150,911,102; CNGA2. c.577C > T; p.Arg193*). The mutation segregates in an X-linked pattern, as all the affected family members are hemizygotes, whereas healthy family members are either heterozygote or homozygote for the reference allele. cnga2 knockout mice are congenitally anosmic and have abnormal olfactory system physiology, additionally Karstensen et al. recently reported two anosmic brothers sharing a CNGA2 truncating variant. Our study in concert with these findings provides strong support for role of CNGA2 gene with pathogenicity of ICA in humans. Together, these results indicate that mutations in key olfactory signaling pathway genes are responsible for human disease.
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