The first mutation in CNGA2 in two brothers with anosmia

H G Karstensen; Y Mang; T Fark; T Hummel; N Tommerup

doi:10.1111/cge.12491

The first mutation in CNGA2 in two brothers with anosmia

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

Medical Genetics Program

12 Citationer (Scopus)

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.

Originalsprog	Engelsk
Tidsskrift	Clinical Genetics
Vol/bind	88
Udgave nummer	3
Sider (fra-til)	293-296
Antal sider	4
ISSN	0009-9163
DOI	https://doi.org/10.1111/cge.12491
Status	Udgivet - 1 sep. 2015

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10.1111/cge.12491

Citationsformater

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title = "The first mutation in CNGA2 in two brothers with anosmia",

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.",

author = "Karstensen, {H G} and Y Mang and T Fark and T Hummel and N Tommerup",

note = "{\textcopyright} 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.",

year = "2015",

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doi = "10.1111/cge.12491",

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T1 - The first mutation in CNGA2 in two brothers with anosmia

AU - Karstensen, H G

AU - Mang, Y

AU - Fark, T

AU - Hummel, T

AU - Tommerup, N

PY - 2015/9/1

Y1 - 2015/9/1

N2 - 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.

AB - 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.

U2 - 10.1111/cge.12491

DO - 10.1111/cge.12491

M3 - Journal article

C2 - 25156905

SN - 0009-9163

VL - 88

SP - 293

EP - 296

JO - Clinical Genetics

JF - Clinical Genetics

IS - 3

ER -

The first mutation in CNGA2 in two brothers with anosmia

Abstract

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