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IFT88 mutations identified in individuals with non-syndromic recessive retinal degeneration result in abnormal ciliogenesis. | LitMetric

AI Article Synopsis

  • - Whole genome sequencing (WGS) identified specific genetic variants linked to inherited retinal degeneration (IRD) in a Caucasian family, particularly focusing on mutations in the IFT88 gene.
  • - The study confirmed that the mutations p.Arg266* and p.Ala568Thr in IFT88 lead to abnormal ciliary structures, indicating a disruption in cellular function.
  • - Results showed that the p.Arg266* mutation causes significant loss of IFT88 mRNA due to nonsense-mediated decay, highlighting its role in retinal disease mechanisms.

Article Abstract

Whole genome sequencing (WGS) was performed to identify the variants responsible for inherited retinal degeneration (IRD) in a Caucasian family. Segregation analysis of selected rare variants with pathogenic potential identified a set of compound heterozygous changes p.Arg266*:c.796C>T and p.Ala568Thr:c.1702G>A in the intraflagellar transport protein-88 (IFT88) gene segregating with IRD. Expression of IFT88 with the p.Arg266* and p.Ala568Thr mutations in mIMDC3 cells by transient transfection and in HeLa cells by introducing the mutations using CRISPR-cas9 system suggested that both mutations result in the formation of abnormal ciliary structures. The introduction of the IFT88 p.Arg266* variant in the homozygous state in HeLa cells by CRISPR-Cas9 genome-editing revealed that the mutant transcript undergoes nonsense-mediated decay leading to a significant depletion of IFT88 transcript. Additionally, abnormal ciliogenesis was observed in these cells. These observations suggest that the rare and unique combination of IFT88 alleles observed in this study provide insight into the physiological role of IFT88 in humans and the likely mechanism underlying retinal pathology in the pedigree with IRD.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6150774PMC
http://dx.doi.org/10.1007/s00439-018-1897-9DOI Listing

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