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Article

Homozygous females for a X-linked RPGR-ORF15 mutation in an Iranian family with retinitis pigmentosa.

Experimental eye research - 1 Oct 2021

Beigi Fahimeh, Del Pozo-Valero Marta, Martin-Merida Inmaculada, Manaviat Masoud Reza, Ayuso Carmen, Ghasemi Nasrin

Abstract excerpt

Mutations in Retinitis pigmentosa GTPase regulator gene (RPGR) are the most common cause of X-linked retinitis pigmentosa (RP). Almost 60% of disease-causing RPGR mutations are located in ORF-15 region which cannot be detected by Next Generation Sequencing (NGS) due to the existence of highly repetitive regions. An Iranian family with a priori diagnosis of autosomal dominant RP was studied by Sanger sequencing of...

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PMID: 34390733
DOI: 10.1016/j.exer.2021.108714

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