Expanding the spectrum of Grik2 mutations: intellectual disability,behavioural disorder,epilepsy and dystonia |
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| Authors: | M. Córdoba S. Rodriguez D. González Morón N. Medina M.A. Kauffman |
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| Affiliation: | 1. Consultorio de Neurogenética. Centro Universitario de Neurología “José María Ramos Mejía” y División Neurología, Hospital JM Ramos Mejía. Facultad de Medicina, UBA. Buenos Aires, Argentina;2. IBCN “Eduardo de Robertis”, Facultad de Medicina, UBA‐CONICET. Buenos Aires, Argentina;3. Consultorio de Movimientos Anormales, Centro Universitario de Neurología “José María Ramos Mejía” y División Neurología. Hospital JM Ramos Mejía. Facultad de Medicina, UBA. Buenos Aires, Argentina |
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| 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. |
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| Keywords: | cyclic nucleotide‐gated channel alpha 2 first mutation isolated congenital general anosmia olfaction |
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