[
    {
        "id": "osp-12588",
        "type": "article-journal",
        "title": "Novel PDE6A mutation in an Emirati patient with retinitis pigmentosa",
        "author": [
            {
                "family": "Nair",
                "given": "Pratibha"
            },
            {
                "family": "Hamzeh",
                "given": "Abdul Rezzak"
            },
            {
                "family": "Malik",
                "given": "Ethar Mustafa"
            },
            {
                "family": "Oberoi",
                "given": "Darshjit"
            },
            {
                "family": "Al-Ali",
                "given": "Mahmoud Taleb"
            },
            {
                "family": "Bastaki",
                "given": "Fatma"
            }
        ],
        "URL": "https://omanscience.com/ar/articles/novel-pde6a-mutation-in-an-emirati-patient-with-retinitis-pigmentosa",
        "language": "en",
        "issued": {
            "date-parts": [
                [
                    2017
                ]
            ]
        },
        "container-title": "Oman Journal of Ophthalmology",
        "volume": "10",
        "issue": "3",
        "page": "228-231",
        "DOI": "10.4103/ojo.ojo_213_2016",
        "publisher": "Medknow Publications",
        "ISSN": "0974-620X",
        "abstract": "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."
    }
]