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Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohort

Lieselot Vincke (UGent) , Kristof Van Schil, Hamid Ahmadieh, Afrooz Moghaddasi, Hamideh Sabbaghi, Narsis Daftarian, Tahmineh Motevasseli, Leila Javanparast Sheykhani, Mohammadreza Dehghani, Mohammad Yahya Vahidi Mehrjardi, et al.
(2025) NPJ GENOMIC MEDICINE. 10(1).
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Abstract
An integrated approach combining whole exome sequencing (WES) and autozygosity mapping was used to molecularly diagnose inherited retinal disease (IRD) in 192 unrelated Iranian families, 76.1% of which originate from a consanguineous background. Data analysis was performed using an in-house pipeline to detect single-nucleotide variants (SNVs), small insertions and deletions, copy number variants (CNVs) and runs of homozygosity (ROHs). Using this approach, we obtained a molecular diagnosis for 72.9% of the cohort. In total, 209 variants were identified in 78 IRD-associated genes. The majority occurred only once (81.8%) and 52.9% were novel. Variants in ROHs were found in 82.8% of patients from consanguineous backgrounds. The importance of structural variation (SV) was demonstrated, with CNVs identified in 5.3%, including several novel CNVs. Multilocus genomic variation was observed in two families. This integrated study using WES and in-depth variant assessment significantly expanded the molecular spectrum of IRD in Iran, an understudied population.
Keywords
COPY-NUMBER VARIATIONS, DIAGNOSIS, HYPOTRICHOSIS, DYSTROPHIES, DELETIONS, VARIANTS, ACCURATE

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MLA
Vincke, Lieselot, et al. “Uncovering the Genetic Architecture of Inherited Retinal Disease in a Consanguineous Iranian Cohort.” NPJ GENOMIC MEDICINE, vol. 10, no. 1, 2025, doi:10.1038/s41525-025-00473-9.
APA
Vincke, L., Van Schil, K., Ahmadieh, H., Moghaddasi, A., Sabbaghi, H., Daftarian, N., … De Baere, E. (2025). Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohort. NPJ GENOMIC MEDICINE, 10(1). https://doi.org/10.1038/s41525-025-00473-9
Chicago author-date
Vincke, Lieselot, Kristof Van Schil, Hamid Ahmadieh, Afrooz Moghaddasi, Hamideh Sabbaghi, Narsis Daftarian, Tahmineh Motevasseli, et al. 2025. “Uncovering the Genetic Architecture of Inherited Retinal Disease in a Consanguineous Iranian Cohort.” NPJ GENOMIC MEDICINE 10 (1). https://doi.org/10.1038/s41525-025-00473-9.
Chicago author-date (all authors)
Vincke, Lieselot, Kristof Van Schil, Hamid Ahmadieh, Afrooz Moghaddasi, Hamideh Sabbaghi, Narsis Daftarian, Tahmineh Motevasseli, Leila Javanparast Sheykhani, Mohammadreza Dehghani, Mohammad Yahya Vahidi Mehrjardi, Julie De Zaeytijd, Marieke De Bruyne, Quinten Mahieu, Ebrahim Al-Hajj, Marta Del Pozo-Valero, Toon Rosseel, Mattias Van Heetvelde, Reza Maroofian, Fatemeh Suri, Miriam Bauwens, and Elfride De Baere. 2025. “Uncovering the Genetic Architecture of Inherited Retinal Disease in a Consanguineous Iranian Cohort.” NPJ GENOMIC MEDICINE 10 (1). doi:10.1038/s41525-025-00473-9.
Vancouver
1.
Vincke L, Van Schil K, Ahmadieh H, Moghaddasi A, Sabbaghi H, Daftarian N, et al. Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohort. NPJ GENOMIC MEDICINE. 2025;10(1).
IEEE
[1]
L. Vincke et al., “Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohort,” NPJ GENOMIC MEDICINE, vol. 10, no. 1, 2025.
@article{01JRAV52KMM2JYH1TB5809B47F,
  abstract     = {{An integrated approach combining whole exome sequencing (WES) and autozygosity mapping was used to molecularly diagnose inherited retinal disease (IRD) in 192 unrelated Iranian families, 76.1% of which originate from a consanguineous background. Data analysis was performed using an in-house pipeline to detect single-nucleotide variants (SNVs), small insertions and deletions, copy number variants (CNVs) and runs of homozygosity (ROHs). Using this approach, we obtained a molecular diagnosis for 72.9% of the cohort. In total, 209 variants were identified in 78 IRD-associated genes. The majority occurred only once (81.8%) and 52.9% were novel. Variants in ROHs were found in 82.8% of patients from consanguineous backgrounds. The importance of structural variation (SV) was demonstrated, with CNVs identified in 5.3%, including several novel CNVs. Multilocus genomic variation was observed in two families. This integrated study using WES and in-depth variant assessment significantly expanded the molecular spectrum of IRD in Iran, an understudied population.}},
  articleno    = {{19}},
  author       = {{Vincke, Lieselot and Van Schil, Kristof and Ahmadieh, Hamid and Moghaddasi, Afrooz and Sabbaghi, Hamideh and Daftarian, Narsis and Motevasseli, Tahmineh and Sheykhani, Leila Javanparast and Dehghani, Mohammadreza and Mehrjardi, Mohammad Yahya Vahidi and De Zaeytijd, Julie and De Bruyne, Marieke and Mahieu, Quinten and Al-Hajj, Ebrahim and Del Pozo-Valero, Marta and Rosseel, Toon and Van Heetvelde, Mattias and Maroofian, Reza and Suri, Fatemeh and Bauwens, Miriam and De Baere, Elfride}},
  issn         = {{2056-7944}},
  journal      = {{NPJ GENOMIC MEDICINE}},
  keywords     = {{COPY-NUMBER VARIATIONS,DIAGNOSIS,HYPOTRICHOSIS,DYSTROPHIES,DELETIONS,VARIANTS,ACCURATE}},
  language     = {{eng}},
  number       = {{1}},
  pages        = {{9}},
  title        = {{Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohort}},
  url          = {{http://doi.org/10.1038/s41525-025-00473-9}},
  volume       = {{10}},
  year         = {{2025}},
}
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