Tehran University of Medical Sciences

Science Communicator Platform

Share By
Exome Sequencing Identifies Novel Genetic Variants in Patients With Atypical Non-Syndromic Retinitis Pigmentosa Publisher Pubmed



Yesharim L ; Hozhabrpour A ; Hosnan F ; Gordiz A ; Hemmati S ; Kazemi P ; Khakpour G ; Abdi F
Authors

Source: Molecular Biology Reports Published:2026


Abstract

Background: Retinitis 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. Methods: To 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. Results: Exome 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. Conclusions: Our 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. © The Author(s), under exclusive licence to Springer Nature B.V. 2025.
Related Docs
View other Related Docs
1. Diagnostic Whole Exome Sequencing in Presumably Autosomal Recessive Inherited Retinal Dystrophies in an Iranian Population, Scientific Reports (2025)
2. Identification of Reln Variant P.(Ser2486gly) in an Iranian Family With Ankylosing Spondylitis; the First Association of Reln and As, European Journal of Human Genetics (2020)
3. Griscelli Syndrome Type 1: A Novel Pathogenic Variant, and Review of Literature, Molecular Genetics and Genomics (2023)
Experts (# of related papers)
View all Related Experts
Reza Shervin Badv (3)
Mahmoudreza Ashrafi (3)
Other Related Docs
4. Clinical Application of Next Generation Sequencing for Mendelian Disease Diagnosis in the Iranian Population, npj Genomic Medicine (2024)
5. Genetic and Clinical Insights Into Pontocerebellar Hypoplasia: Identification of Novel Variants in an Iranian Cohort, European Journal of Medical Genetics (2026)
6. A Novel Deletion Variant in Cln3 With Highly Variable Expressivity Is Responsible for Juvenile Neuronal Ceroid Lipofuscinoses, Acta Neurologica Belgica (2021)
7. Clinical Implications of Systematic Phenotyping and Exome Sequencing in Patients With Primary Antibody Deficiency, Genetics in Medicine (2019)
8. Clinical and Molecular Characterization of Krabbe Disease in Iranian Patients: Case Report and Literature Review, BMC Neurology (2026)
9. Variable Phenotypic Manifestations of Two Splice-Site Variants in Dnajb2: Insights From Two Families and a Systematic Review, Journal of Human Genetics (2026)
10. Genotype-Phenotype Correlation and Description of Two Novel Mutations in Iranian Patients With Glycogen Storage Disease 1B (Gsd1b), Orphanet Journal of Rare Diseases (2020)
11. Causative Variants Linked With Limb Girdle Muscular Dystrophy in an Iranian Population: 6 Novel Variants, Molecular Genetics and Genomic Medicine (2023)
12. Identification of a Novel Frameshift Mutation in the Tecta Gene in an Iranian Family With Autosomal Nonsyndromic Hearing Loss, Acta Medica Iranica (2021)
13. Dna Repair-Related Heritable Photosensitivity Syndromes: Mutation Landscape in a Multiethnic Cohort of 17 Multigenerational Families With High Degree of Consanguinity, DNA Repair (2024)
14. Epilepsia Partialis Continua a Clinical Feature of a Missense Variant in the Adck3 Gene and Poor Response to Therapy, Journal of Molecular Neuroscience (2022)
15. Bi-Allelic Loss of Function Variant in the Nrcam Gene Is Associated With Motor-Predominant Axonal Polyneuropathy; the Second Report, Molecular Genetics and Genomic Medicine (2023)
16. A Novel Pathogenic Variant in the Lrtomt Gene Causes Autosomal Recessive Non-Syndromic Hearing Loss in an Iranian Family, BMC Medical Genetics (2020)
17. Clinical and Mutation Description of the First Iranian Cohort of Infantile Inflammatory Bowel Disease: The Iranian Primary Immunodeficiency Registry (Ipidr), Immunological Investigations (2020)
18. Nemaline Myopathy: Reclassification of Previously Reported Variants According to Acmg Guidelines, and Report of Novel Genetic Variants, European Journal of Human Genetics (2023)
19. Molecular Diagnosis of Hereditary Neuropathies by Whole Exome Sequencing and Expanding the Phenotype Spectrum, Archives of Iranian Medicine (2020)
20. A Case of a 6-Year-Old Girl With a Rare Compound Heterozygous Mutation of Kctd7 Presenting With Progressive Myoclonic Epilepsy, Egyptian Journal of Medical Human Genetics (2024)