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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| Format: | Article |
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Nature Portfolio
2017-06-01
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| Series: | Scientific Reports |
| Online Access: | https://doi.org/10.1038/s41598-017-02947-y |
| _version_ | 1818429691873198080 |
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| 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 |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-12-14T15:21:33Z |
| format | Article |
| id | doaj.art-252479d40f074f6aa2129cbca893ef7e |
| institution | Directory Open Access Journal |
| issn | 2045-2322 |
| language | English |
| last_indexed | 2024-12-14T15:21:33Z |
| publishDate | 2017-06-01 |
| publisher | Nature Portfolio |
| record_format | Article |
| series | Scientific Reports |
| spelling | doaj.art-252479d40f074f6aa2129cbca893ef7e2022-12-21T22:56:09ZengNature PortfolioScientific Reports2045-23222017-06-01711510.1038/s41598-017-02947-yIsolated Congenital Anosmia and CNGA2 MutationM. Reza Sailani0Inlora Jingga1Seyed Hashem MirMazlomi2Fatemeh Bitarafan3Jonathan A. Bernstein4Michael P. Snyder5Masoud Garshasbi6Department of Genetics, Stanford UniversityDepartment of Genetics, Stanford UniversityMedical Genetics Department, DeNA laboratoryMedical Genetics Department, DeNA laboratoryDepartment of Pediatrics, Stanford UniversityDepartment of Genetics, Stanford UniversityMedical Genetics Department, DeNA laboratoryAbstract 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.https://doi.org/10.1038/s41598-017-02947-y |
| spellingShingle | M. Reza Sailani Inlora Jingga Seyed Hashem MirMazlomi Fatemeh Bitarafan Jonathan A. Bernstein Michael P. Snyder Masoud Garshasbi Isolated Congenital Anosmia and CNGA2 Mutation Scientific Reports |
| title | 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_short | Isolated Congenital Anosmia and CNGA2 Mutation |
| title_sort | isolated congenital anosmia and cnga2 mutation |
| url | https://doi.org/10.1038/s41598-017-02947-y |
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