الملخص
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.
الكلمات المفتاحية
بيانات النشر
- المعرّف الرقمي
- 10.4103/ojo.ojo_213_2016
- المجلة
- المجلة العُمانية لطب العيون, 10(3), 228-231
- الناشر
- منشورات ميدنو
- وصول مفتوح
- وصول مفتوح ذهبي
اقتبس هذه المقالة
APA 7
Nair, P., Hamzeh, A. R., Malik, E. M., Oberoi, D., Al-Ali, M. T., & Bastaki, F. (2017). Novel PDE6A mutation in an Emirati patient with retinitis pigmentosa. Oman Journal of Ophthalmology, 10(3), 228-231. https://doi.org/10.4103/ojo.ojo_213_2016
MLA 9
Nair, Pratibha, et al. "Novel PDE6A mutation in an Emirati patient with retinitis pigmentosa." Oman Journal of Ophthalmology, vol. 10, no. 3, 2017, pp. 228-231. https://doi.org/10.4103/ojo.ojo_213_2016.
شيكاغو (المؤلف–التاريخ)
Nair, Pratibha, Abdul Rezzak Hamzeh, Ethar Mustafa Malik, Darshjit Oberoi, Mahmoud Taleb Al-Ali, and Fatma Bastaki. 2017. "Novel PDE6A mutation in an Emirati patient with retinitis pigmentosa." Oman Journal of Ophthalmology 10 (3): 228-231. https://doi.org/10.4103/ojo.ojo_213_2016.
هارفارد
Nair, P., Hamzeh, A. R., Malik, E. M., Oberoi, D., Al-Ali, M. T. and Bastaki, F. (2017) 'Novel PDE6A mutation in an Emirati patient with retinitis pigmentosa', Oman Journal of Ophthalmology, 10(3), pp. 228-231. doi:10.4103/ojo.ojo_213_2016.
فانكوفر
Nair P, Hamzeh AR, Malik EM, Oberoi D, Al-Ali MT, Bastaki F. Novel PDE6A mutation in an Emirati patient with retinitis pigmentosa. Oman Journal of Ophthalmology. 2017;10(3):228-231. doi:10.4103/ojo.ojo_213_2016
IEEE
P. Nair, A. R. Hamzeh, E. M. Malik, D. Oberoi, M. T. Al-Ali, and F. Bastaki, "Novel PDE6A mutation in an Emirati patient with retinitis pigmentosa," Oman Journal of Ophthalmology, vol. 10, no. 3, pp. 228-231, 2017, doi: 10.4103/ojo.ojo_213_2016.