Evidence map›Paper›PMID 41460542›Full record

ArticleMolecular biology reports2025

Exome sequencing identifies novel genetic variants in patients with atypical Non-Syndromic retinitis pigmentosa.

Liora Yesharim, Amir Hozhabrpour, Fatemeh Hosnan, Arzhang Gordiz, Sara Hemmati, Pegah Kazemi, Golnaz Khakpour, Fatemeh Abdi

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Article in Molecular biology reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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5 · Who and what money

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8 authors.

Liora Yesharim *Department of Medical Genetics, School of Medicine, Iran University of Medical Sciences, Tehran, Iran.
Amir Hozhabrpour *Department of Medical Genetics, School of Medicine, Iran University of Medical Sciences, Tehran, Iran.
Fatemeh HosnanEye Research Center, Eye Department, Rassoul Akram Hospital, School of Medicine, The Five Senses Health Institute, Iran University of Medical Sciences, Tehran, Iran.
Arzhang GordizOphthalmic Research Center, Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Sara HemmatiEye Research Center, Eye Department, Rassoul Akram Hospital, School of Medicine, The Five Senses Health Institute, Iran University of Medical Sciences, Tehran, Iran.
Pegah KazemiEye Research Center, Eye Department, Rassoul Akram Hospital, School of Medicine, The Five Senses Health Institute, Iran University of Medical Sciences, Tehran, Iran.
Golnaz KhakpourDepartment of Medical Genetics, School of Medicine, Iran University of Medical Sciences, Tehran, Iran. khakpour.g@iums.ac.ir.ORCID http://orcid.org/0000-0002-4070-6265
Fatemeh AbdiEye Research Center, Eye Department, Rassoul Akram Hospital, School of Medicine, The Five Senses Health Institute, Iran University of Medical Sciences, Tehran, Iran. fatemeh.abdi62@yahoo.com.ORCID http://orcid.org/0000-0002-0280-2969

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundRetinitis Pigmentosa is the leading cause of hereditary blindness. This clinically and genetically heterogeneous group of disorders typically begins with night blindness and progresses to complete vision loss. In atypical cases, the classic triad of retinal bone-spicule pigmentation, blood vessel attenuation, and waxy disc pallor is absent, complicating definitive clinical diagnosis.

methodsTo identify the underlying genetic causes in diagnostically challenging cases, exome sequencing was conducted on eight unrelated patients with atypical, non-syndromic Retinitis Pigmentosa. Putative causative variants were confirmed, and segregation analysis was performed in available families using Sanger sequencing.

resultsExome sequencing detected three novel pathogenic variants: MAK:c.768delA, RP1:c.4743delA, and RPE65:c.95-2 A > G. Furthermore, several known variants previously associated with atypical RP phenotypes were identified in our study, reinforcing their role in the disease and underscoring the critical value of genetic testing for a conclusive diagnosis.

conclusionsOur findings expand the mutational spectrum associated with Retinitis Pigmentosa, particularly in atypical cases. The identification of both novel and non-novel variants highlights the importance of Exome Sequencing in accurate diagnosis and possible personalized treatment.

Indexed as

Retinitis PigmentosaAdultcis-trans-IsomerasesExomeExome SequencingEye ProteinsFemaleGenetic VariationHumansMaleMicrotubule-Associated ProteinsMiddle AgedMutationPedigreePhenotypeRetinoid Isomerohydrolasecis-trans-IsomerasesEye ProteinsMicrotubule-Associated ProteinsRetinoid IsomerohydrolaseRP1 protein, humanAtypical retinitis pigmentosaExome sequencingNext generation sequencingNight blindness

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PMID41460542

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