Isolated Congenital Anosmia and CNGA2 Mutation

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 ga...

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Autores principales:	M. Reza Sailani, Inlora Jingga, Seyed Hashem MirMazlomi, Fatemeh Bitarafan, Jonathan A. Bernstein, Michael P. Snyder, Masoud Garshasbi
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2017
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/252479d40f074f6aa2129cbca893ef7e
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spelling	oai:doaj.org-article:252479d40f074f6aa2129cbca893ef7e2021-12-02T12:30:45ZIsolated Congenital Anosmia and CNGA2 Mutation10.1038/s41598-017-02947-y2045-2322https://doaj.org/article/252479d40f074f6aa2129cbca893ef7e2017-06-01T00:00:00Zhttps://doi.org/10.1038/s41598-017-02947-yhttps://doaj.org/toc/2045-2322Abstract 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.M. Reza SailaniInlora JinggaSeyed Hashem MirMazlomiFatemeh BitarafanJonathan A. BernsteinMichael P. SnyderMasoud GarshasbiNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 7, Iss 1, Pp 1-5 (2017)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q M. Reza Sailani Inlora Jingga Seyed Hashem MirMazlomi Fatemeh Bitarafan Jonathan A. Bernstein Michael P. Snyder Masoud Garshasbi Isolated Congenital Anosmia and CNGA2 Mutation
description	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.
format	article
author	M. Reza Sailani Inlora Jingga Seyed Hashem MirMazlomi Fatemeh Bitarafan Jonathan A. Bernstein Michael P. Snyder Masoud Garshasbi
author_facet	M. Reza Sailani Inlora Jingga Seyed Hashem MirMazlomi Fatemeh Bitarafan Jonathan A. Bernstein Michael P. Snyder Masoud Garshasbi
author_sort	M. Reza Sailani
title	Isolated Congenital Anosmia and CNGA2 Mutation
title_short	Isolated Congenital Anosmia and CNGA2 Mutation
title_full	Isolated Congenital Anosmia and CNGA2 Mutation
title_fullStr	Isolated Congenital Anosmia and CNGA2 Mutation
title_full_unstemmed	Isolated Congenital Anosmia and CNGA2 Mutation
title_sort	isolated congenital anosmia and cnga2 mutation
publisher	Nature Portfolio
publishDate	2017
url	https://doaj.org/article/252479d40f074f6aa2129cbca893ef7e
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Isolated Congenital Anosmia and CNGA2 Mutation

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