Isfahan University of Medical Sciences

Science Communicator Platform

Stay connected! Follow us on X network (Twitter):
Share this content! On (X network) By
Targeted Next Generation Sequencing Reveals Genetic Defects Underlying Inherited Retinal Disease in Iranian Families Pubmed



Tayebi N1 ; Akinrinade O1 ; Khan MI2, 3 ; Hejazifar A4 ; Dehghani A5 ; Cremers FPM2, 3 ; Akhlaghi M5
Authors
Show Affiliations
Authors Affiliations
  1. 1. Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada
  2. 2. Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
  3. 3. Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands
  4. 4. Department of Biology, School of Sciences, The University of Isfahan, Isfahan, Iran
  5. 5. Department of Ophthalmology, Isfahan Eye Research Center, Isfahan University of Medical Sciences, Isfahan, Iran

Source: Molecular Vision Published:2019


Abstract

Purpose: Inherited retinal diseases (IRDs) are clinically and genetically heterogeneous showing progressive retinal cell death which results in vision loss. IRDs include a wide spectrum of disorders, such as retinitis pigmentosa (RP), Leber congenital amaurosis (LCA), cone-rod dystrophy (CRD), and Stargardt disease (STGD1). Methods: In this study, we performed targeted next-generation sequencing based on molecular inversion probes (MIPs) that allowed the sequence analysis of 108 IRD-associated genes in 50 Iranian IRD probands. Results: The sequencing and variant filtering led to the identification of putative pathogenic variants in 36 out of 50 (72%) probands. Among 36 unique variants, we identified 20 novel variants in 15 genes. Four out of 36 probands carry compound heterozygous variants, and 32 probands carry homozygous variants. Conclusions: Employing a cost-effective targeted next-generation sequencing procedure, we identified the genetic causes of different retinal disorders in the majority of Iranian families in this study. © 2019 Molecular Vision.
Related Docs
View other Related Docs
1. Mfsd8 Gene Mutations; Evidence for Phenotypic Heterogeneity, Ophthalmic Genetics (2019)
2. Possible Dual Contribution of a Novel Gucy2d Mutation in the Development of Retinal Degeneration in a Consanguineous Population, European Journal of Medical Genetics (2020)
3. A Novel Deletion Mutation in Gucy2d Gene May Be Responsible for Leber Congenital Amaurosis-1 Disease: A Case Report, Journal of Current Ophthalmology (2019)
4. Identification of Pros1 As a Novel Candidate Gene for Juvenile Retinitis Pigmentosa, International Journal of Molecular and Cellular Medicine (2019)
5. Autozygosity-Driven Genetic Diagnosis in Consanguineous Families From Italy and the Greater Middle East, Human Genetics (2020)
6. Molecular Characterization of a Large Cohort of Mucopolysaccharidosis Patients: Iran Mucopolysaccharidosis Re-Diagnosis Study (Impression), Human Mutation (2022)
7. Homozygosity Mapping and Direct Sequencing Identify a Novel Pathogenic Variant in the Cisd2 Gene in an Iranian Wolfram Syndrome Family, Acta Diabetologica (2020)
8. Targeting Relevant Hdacs to Support the Survival of Cone Photoreceptors in Inherited Retinal Diseases: Identification of a Potent Pharmacological Tool With in Vitro and in Vivo Efficacy, Journal of Medicinal Chemistry (2024)
Experts (# of related papers)
View all Related Experts
Mohammad Amin Tabatabaiefar (12)
Ali Salehi (5)
Other Related Docs
9. Clinical, Immunologic, and Genetic Spectrum of 696 Patients With Combined Immunodeficiency, Journal of Allergy and Clinical Immunology (2018)
10. Mutation Analysis of Gjb2 and Gjb6 Genes and Screening of Nine Common Dfnb Loci in Iranian Pedigrees With Autosomal Recessive Nonsyndromic Hearing Loss, Indian Journal of Otology (2019)
11. Targeted Sequencing of Cdh23 and Gjb2 Genes in an Iranian Pedigree With Usher Syndrome and Non-Syndromic Hearing Loss, Gene Reports (2021)
12. Whole Exome Sequencing Revealed a Novel Gjb1 Pathogenic Variant and a Rare Bscl2 Mutation in Two Iranian Large Pedigrees With Multiple Affected Cases of Charcot-Marie-Tooth, International Journal of Molecular and Cellular Medicine (2019)
13. Mutation Screening of 3’Utr and Exons 1-2 of Vsx1 Gene by Pcr-Sscp/Ha and Sequencing in Patients With Vernal Keratoconjuctivis (Vkc) in Shahrekord, Journal of Zanjan University of Medical Sciences and Health Services (2015)
14. A Homozygous Nonsense Variant in Uvssa Causes Uv‑Sensitive Syndrome From Very Large Kindred: The First Report From Iran, Advanced Biomedical Research (2023)
15. Genetic Analysis of Mecp2 Gene in Iranian Patients With Rett Syndrome, Iranian Journal of Child Neurology (2019)
16. Proband-Only Exome Sequencing for Intellectual Disability in Iran: Diagnostic Yield and Genetic Insights, American Journal of Medical Genetics, Part A (2024)
17. Novel In-Frame Duplication Variant Characterization in Late Infantile Metachromatic Leukodystrophy Using Whole-Exome Sequencing and Molecular Dynamics Simulation, PLoS ONE (2023)
18. Genetic Screening in Adolescents With Steroid-Resistant Nephrotic Syndrome, Kidney International (2013)
19. Studying Vsx1 Gene Mutations in Patients With Keratoconus of Chaharmahal and Bakhtiari Province, Iran, Journal of Kerman University of Medical Sciences (2013)
20. Whole-Transcriptome Sequencing–Based Concomitant Detection of Viral and Human Genetic Determinants of Cutaneous Lesions, JCI Insight (2022)
21. Mutation Analysis of Vsx1 Gene in Vernal Keratoconjunctivitis Patients, Meta Gene (2020)
22. Next-Generation Sequencing Reveals a Novel Pathological Mutation in the Tmc1 Gene Causing Autosomal Recessive Non-Syndromic Hearing Loss in an Iranian Kindred, International Journal of Pediatric Otorhinolaryngology (2019)
23. A Novel Homozygous Mutation in Hsf4 Causing Autosomal Recessive Congenital Cataract, Journal of Human Genetics (2016)
24. A Novel Pathogenic Variant in an Iranian Ataxia Telangiectasia Family Revealed by Next-Generation Sequencing Followed by in Silico Analysis, Journal of the Neurological Sciences (2017)
25. Evaluation of Common Col2a1 Gene Variants in Iranian Patients Suspected With Stickler Syndrome Type I, Journal of Research in Medical Sciences (2025)
26. A Novel Mettl5 Variant Disrupting a Donor Splice Site Leads to Primary Microcephaly-Related Intellectual Disability in an Iranian Family: Clinical Features and Literature Review, Journal of Genetics (2023)
27. Griscelli Syndrome Type 1: A Novel Pathogenic Variant, and Review of Literature, Molecular Genetics and Genomics (2023)
28. Genetic Heterogeneity in Cornelia De Lange Syndrome (Cdls) and Cdls-Like Phenotypes With Observed and Predicted Levels of Mosaicism, Journal of Medical Genetics (2014)
29. The Role of Transcription Factors in Regulating the Development and Differentiation of Neural Retina Cells, Journal of Isfahan Medical School (2015)
30. Study of Vsx1 Mutations in Patients With Keratoconus in Southwest Iran Using Pcr-Single-Strand Conformation Polymorphism/Heteroduplex Analysis and Sequencing Method, Acta Cytologica (2013)
31. The Identification and Stereochemistry Analysis of a Novel Mutation P.(D367tfs∗61) in the Cyp1b1 Gene: A Case Report, Journal of Current Ophthalmology (2020)
32. Clinical Characterizations and Molecular Genetic Study of Two Co-Segregating Variants in Pdzd7 and Pde6c Genes Leading Simultaneously to Non-Syndromic Hearing Loss and Achromatopsia, BMC Medical Genomics (2024)
33. Identification of a Missense Variant in the Eif2b3 Gene Causing Vanishing White Matter Disease With Antenatal-Onset But Mild Symptoms and Long-Term Survival, Journal of Molecular Neuroscience (2021)
34. Clinical and Genetic Profile of Children With Unexplained Intellectual Disability/Developmental Delay and Epilepsy, Epilepsy Research (2021)
35. Cyp1b1 Mutation Profile of Iranian Primary Congenital Glaucoma Patients and Associated Haplotypes, Journal of Molecular Diagnostics (2007)
36. Two Novel Homozygous Rab3gap1 Mutations Cause Warburg Micro Syndrome, Human Genome Variation (2015)
37. Germline Likely Pathogenic Variants in Ataxia-Telangiectasia-Mutated Gene in an Iranian Family With Hereditary Diffuse Gastric Cancer Without Cdh1 Mutation, Journal of Cancer Research and Therapeutics (2021)
38. A Novel Pathogenic Variant in the Mitf Gene Segregating With a Unique Spectrum of Ocular Findings in an Extended Iranian Waardenburg Syndrome Kindred, Molecular Syndromology (2017)
39. Sox10 Mutation Causes Waardenburg Syndrome Associated With Distinctive Phenotypic Features in an Iranian Family: A Clue for Phenotype-Directed Genetic Analysis, International Journal of Pediatric Otorhinolaryngology (2017)
40. A Pathogenic Variant in the Transforming Growth Factor Beta I (Tgfbi) in Four Iranian Extended Families Segregating Granular Corneal Dystrophy Type Ii: A Literature Review, Iranian Journal of Basic Medical Sciences (2020)