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

Novel PDE6A mutation in an Emirati patient with retinitis pigmentosa


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
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ojo.OJO_213_2016

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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.


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