Novel PDE6A mutation in an Emirati patient with retinitis pigmentosa
Mutations in the PDE6A gene are known to cause a form of retinitis pigmentosa (RP43), characterized by progressive retinal degeneration. We describe an Emirati patient with RP caused by a novel mutation in PDE6A. Clinical diagnosis of RP was made based on clinical evaluation and electroretinograms....
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2017-01-01
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| Series: | Oman Journal of Ophthalmology |
| Subjects: | |
| Online Access: | http://www.ojoonline.org/article.asp?issn=0974-620X;year=2017;volume=10;issue=3;spage=228;epage=231;aulast=Nair |
| _version_ | 1828787436228968448 |
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| author | Pratibha Nair Abdul Rezzak Hamzeh Ethar Mustafa Malik Darshjit Oberoi Mahmoud Taleb Al-Ali Fatma Bastaki |
| author_facet | Pratibha Nair Abdul Rezzak Hamzeh Ethar Mustafa Malik Darshjit Oberoi Mahmoud Taleb Al-Ali Fatma Bastaki |
| author_sort | Pratibha Nair |
| collection | DOAJ |
| description | Mutations in the PDE6A gene are known to cause a form of retinitis pigmentosa (RP43), characterized by progressive retinal degeneration. We describe an Emirati patient with RP caused by a novel mutation in PDE6A. Clinical diagnosis of RP was made based on clinical evaluation and electroretinograms. The molecular analysis involved performing whole-exome sequencing, which enabled the identification of a homozygous 2-bp deletion (c.1358_1359delAT) in PDE6A, which was predicted to result in a frameshift and premature termination (p.Ile452Serfs*7). The mutation completely removed the catalytic PDEase domain in the protein. The parents were found to be heterozygous carriers of the variant. We thus report the first known case of a pathological variant in the PDE6A gene from the Arabian Peninsula. |
| first_indexed | 2024-12-12T00:31:27Z |
| format | Article |
| id | doaj.art-93b58fbfbe594dd8877cda4ff3f29037 |
| institution | Directory Open Access Journal |
| issn | 0974-620X |
| language | English |
| last_indexed | 2024-12-12T00:31:27Z |
| publishDate | 2017-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Oman Journal of Ophthalmology |
| spelling | doaj.art-93b58fbfbe594dd8877cda4ff3f290372022-12-22T00:44:29ZengWolters Kluwer Medknow PublicationsOman Journal of Ophthalmology0974-620X2017-01-0110322823110.4103/ojo.OJO_213_2016Novel PDE6A mutation in an Emirati patient with retinitis pigmentosaPratibha NairAbdul Rezzak HamzehEthar Mustafa MalikDarshjit OberoiMahmoud Taleb Al-AliFatma BastakiMutations in the PDE6A gene are known to cause a form of retinitis pigmentosa (RP43), characterized by progressive retinal degeneration. We describe an Emirati patient with RP caused by a novel mutation in PDE6A. Clinical diagnosis of RP was made based on clinical evaluation and electroretinograms. The molecular analysis involved performing whole-exome sequencing, which enabled the identification of a homozygous 2-bp deletion (c.1358_1359delAT) in PDE6A, which was predicted to result in a frameshift and premature termination (p.Ile452Serfs*7). The mutation completely removed the catalytic PDEase domain in the protein. The parents were found to be heterozygous carriers of the variant. We thus report the first known case of a pathological variant in the PDE6A gene from the Arabian Peninsula.http://www.ojoonline.org/article.asp?issn=0974-620X;year=2017;volume=10;issue=3;spage=228;epage=231;aulast=NairEmiratiPDE6Aretinitis pigmentosawhole-exome sequencing |
| spellingShingle | Pratibha Nair Abdul Rezzak Hamzeh Ethar Mustafa Malik Darshjit Oberoi Mahmoud Taleb Al-Ali Fatma Bastaki Novel PDE6A mutation in an Emirati patient with retinitis pigmentosa Oman Journal of Ophthalmology Emirati PDE6A retinitis pigmentosa whole-exome sequencing |
| title | Novel PDE6A mutation in an Emirati patient with retinitis pigmentosa |
| title_full | Novel PDE6A mutation in an Emirati patient with retinitis pigmentosa |
| title_fullStr | Novel PDE6A mutation in an Emirati patient with retinitis pigmentosa |
| title_full_unstemmed | Novel PDE6A mutation in an Emirati patient with retinitis pigmentosa |
| title_short | Novel PDE6A mutation in an Emirati patient with retinitis pigmentosa |
| title_sort | novel pde6a mutation in an emirati patient with retinitis pigmentosa |
| topic | Emirati PDE6A retinitis pigmentosa whole-exome sequencing |
| url | http://www.ojoonline.org/article.asp?issn=0974-620X;year=2017;volume=10;issue=3;spage=228;epage=231;aulast=Nair |
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