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2023 ACMG Annual Clinical Genetics Meeting Digital ...
Disease-Causing Variants in Inherited Retinal Dise ...
Disease-Causing Variants in Inherited Retinal Diseases Genes in an Ethnically Diverse Pakistani population--Experience from an Academic Medical Center
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A study was conducted to analyze disease-causing variants in inherited retinal diseases (IRDs) in an ethnically diverse Pakistani population. The study included a total of 78 patients with suspected or confirmed IRD referred to the genetics clinic at the Aga Khan University Hospital. Genetic testing was performed using the Next Generation Sequencing Inherited Retinal Disorders Panel, which included 330 genes associated with IRDs.<br /><br />The results showed that 52 patients (66%) carried pathogenic or likely pathogenic variants in IRD-associated genes. After further analysis and variant segregation in families, the diagnostic yield increased to 78%. The majority of the confirmed cases of IRDs were genetically heterogeneous and were associated with variants in 44 different genes. The most commonly identified genes were ABCA4, CNGA3, USH2A, RDH12, AIPL1, and PROM1.<br /><br />The study also found high carrier frequencies of IRDs in the Pakistani population, as multiple variants were detected in unrelated families. This suggests the presence of possible founder variants in the population. For example, the variant ABCA4, Intron 48, c.6729+5_6729+19del was detected in four families.<br /><br />Overall, the study highlights the landscape of genetic abnormalities associated with IRDs in the Pakistani population. The high diagnostic yield of 78% indicates the potential for gene therapy as a sight-saving treatment modality for IRDs in this population. The findings also provide insights into the prevalence of IRDs and opportunities for inclusion in ongoing clinical trials.<br /><br />References:<br />1. Amato A, et al. Gene Therapy in Inherited Retinal Diseases: An Update on Current State of the Art.<br />2. Farrar GJ, et al. Toward an elucidation of the molecular genetics of inherited retinal degenerations.<br />3. Nuzbrokh Y, et al. Gene therapy for inherited retinal diseases.<br />4. Shah M, et al. Next generation sequencing using phenotype-based panels for genetic testing in inherited retinal diseases.<br />5. Jiman OA, et al. Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease.
Asset Subtitle
Co-Author - Malika Fatima, PharmaD; Presenting Author - Maheen Zakaria, BSc; Co-Author - Fizza Akbar, BSc, MSc; Co-Author - Irfan Jeeva, MBBS; Co-Author - Haroon Tayyab, MBBS; Co-Author - Rehman Siddiqui, MBBS; Co-Author - Salman Kirmani, Dr., MBBS, FACMG;
Meta Tag
Eye disorders
Genetic Testing
Identification of Disease Genes
NextGen Sequencing
Variant Detection
Co-Author
Malika Fatima, PharmaD
Co-Author
Fizza Akbar, BSc, MSc
Co-Author
Irfan Jeeva, MBBS
Co-Author
Haroon Tayyab, MBBS
Co-Author
Rehman Siddiqui, MBBS
Co-Author
Salman Kirmani, Dr., MBBS, FACMG
Presenting Author
Maheen Zakaria, BSc
Keywords
disease-causing variants
inherited retinal diseases
ethnically diverse Pakistani population
genetic testing
Next Generation Sequencing
Inherited Retinal Disorders Panel
pathogenic variants
diagnostic yield
genetically heterogeneous
founder variants
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