Oman Journal of Ophthalmology

CASE REPORT
Year
: 2017  |  Volume : 10  |  Issue : 3  |  Page : 228--231

Novel PDE6A mutation in an Emirati patient with retinitis pigmentosa


Pratibha Nair1, Abdul Rezzak Hamzeh1, Ethar Mustafa Malik2, Darshjit Oberoi3, Mahmoud Taleb Al-Ali1, Fatma Bastaki2 
1 Centre for Arab Genomic Studies, Dubai, UAE
2 Department of Pediatric, Latifa Hospital, Dubai Health Authority, Dubai, UAE
3 Department of Ophthalmology, Dubai Hospital, Dubai, UAE

Correspondence Address:
Pratibha Nair
Centre for Arab Genomic Studies, Dubai
UAE

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.


How to cite this article:
Nair P, Hamzeh AR, Malik EM, Oberoi D, Al-Ali MT, Bastaki F. Novel PDE6A mutation in an Emirati patient with retinitis pigmentosa.Oman J Ophthalmol 2017;10:228-231


How to cite this URL:
Nair P, Hamzeh AR, Malik EM, Oberoi D, Al-Ali MT, Bastaki F. Novel PDE6A mutation in an Emirati patient with retinitis pigmentosa. Oman J Ophthalmol [serial online] 2017 [cited 2021 Apr 15 ];10:228-231
Available from: https://www.ojoonline.org/article.asp?issn=0974-620X;year=2017;volume=10;issue=3;spage=228;epage=231;aulast=Nair;type=0