Identification of RP1 as the genetic cause of retinitis pigmentosa in a multi-generational pedigree using Extremely Low-Coverage Whole Genome Sequencing (XLC-WGS)

J, Lázaro-Guevara; Robles, Bryan-Josué Flores-; Garrido-Lopez, Karen M.; McKeown, Ryan J.; Flores-Morán, Adriana; Labrador-Sánchez, Eztizen; Pinillos-Aransay, Valvanera; Trasahedo, Estibaliz A.; López-Martín, Juan-Antonio; Soberanis, Laura Sofía Reyna; Melgar, Mariano Yee; Téllez-Arreola, José Luis; Thebault, Stéphanie

doi:10.1016/j.gene.2022.146956

Cited by 3 publications

(2 citation statements)

References 59 publications

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“…This is more cost-effective compared to NGS (Lázaro-Guevara et al 2023 ) and provides a wealth of information surpassing that of other molecular techniques (Lee and Behr 2016 ), so it can be utilized in mixed infections (Tarashi et al 2017 ). WGS is one of the strong technologies in comparison with other genome sequencing tools such as RFLP and Mycobacterial interspersed repetitive-unit–variable-number tandem-repeat (MIRU-VNTR) (Vaziri et al 2019 ).…”

Section: Assays and Methodsmentioning

confidence: 99%

“…It boasts the highest discriminatory capability among established methods (Baert et al 2021 ). This approach enables the assessment of low-frequency variations and the detection of single nucleotide and rare mutations (Lázaro-Guevara et al 2023 ; Schwarze et al 2018 ). WGS finds extensive application in the diagnosis of disease outbreaks (Rubin et al 2022 ).…”

Section: Assays and Methodsmentioning

confidence: 99%

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New insight in molecular detection of Mycobacterium tuberculosis

Mousavi-Sagharchi,

Afrazeh,

Seyyedian-Nikjeh

et al. 2024

AMB Expr

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Mycobacterium tuberculosis, the causative agent of tuberculosis, is a pathogenic bacterium that has claimed millions of lives since the Middle Ages. According to the World Health Organization’s report, tuberculosis ranks among the ten deadliest diseases worldwide. The presence of an extensive array of genes and diverse proteins within the cellular structure of this bacterium has provided us with a potent tool for diagnosis. While the culture method remains the gold standard for tuberculosis diagnosis, it is possible that molecular diagnostic methods, emphasis on the identification of mutation genes (e.g., rpoB and gyrA) and single nucleotide polymorphisms, could offer a safe and reliable alternative. Over the past few decades, as our understanding of molecular genetics has expanded, methods have been developed based on gene expansion and detection. These methods typically commence with DNA amplification through nucleic acid targeted techniques such as polymerase chain reaction. Various molecular compounds and diverse approaches have been employed in molecular assays. In this review, we endeavor to provide an overview of molecular assays for the diagnosis of tuberculosis with their properties (utilization, challenges, and functions). The ultimate goal is to explore the potential of replacing traditional bacterial methods with these advanced molecular diagnostic techniques.

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Section: Assays and Methodsmentioning

confidence: 99%

Section: Assays and Methodsmentioning

confidence: 99%

New insight in molecular detection of Mycobacterium tuberculosis

Mousavi-Sagharchi,

Afrazeh,

Seyyedian-Nikjeh

et al. 2024

AMB Expr

View full text Add to dashboard Cite

show abstract

Discovery of a Novel Missense Mutation in the RIMS1 Gene Potentially Enhances the Severity of Retinitis Pigmentosa (RP) Caused by RP1 Mutation in Humans

Lazaro-Guevara,

Garrido-Lopez,

Soberanis

et al. 2024

Preprint

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Retinitis pigmentosa (RP) is a genetically diverse disorder characterized by the progressive degeneration of photoreceptors, ultimately leading to vision impairment and potential blindness. Understanding the disease progression and developing effective therapies is challenging due to its complex genetic landscape. This study unveils a di-genic complexity in RP involving a novel missense mutation in the RIMS1 and RP1 genes, traditionally associated with Cone-Rod Dystrophy. This mutation potentially enhances the RP phenotype, particularly in cases caused by RP1 mutations. We conducted a comprehensive genetic analysis on a family with a severe form of RP, focusing on the combined effects of RIMS1 and RP1. Using a targeted gene panel of 322 inherited retinal dystrophy (IRD) genes, we discovered a significant interaction between the RIMS1 variant and RP1 mutation within the cohort. Interestingly, patients with identical mutations exhibited substantial disease severity and progression differences. This discrepancy was particularly apparent in Patient E_1, who experienced rapid vision decline, emphasizing the impact of the mutation when combined with RP1. Biological network analysis shed light on the intricate genetic interplay, indicating a complex mechanism of disease modulation. Our findings contribute to a more nuanced understanding of RP's genetic heterogeneity. The RIMS1 variant may serve as a modifier of the disease phenotype. This discovery expands our comprehension of the genetic factors influencing RP and underscores the importance of considering digenic interactions in future research and therapy development for retinal dystrophies.

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Gene Therapy for Retinitis Pigmentosa: Current Challenges and New Progress

Liu,

Zong,

Cao

et al. 2024

Biomolecules

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Retinitis pigmentosa (RP) poses a significant threat to eye health worldwide, with prevalence rates of 1 in 5000 worldwide. This genetically diverse retinopathy is characterized by the loss of photoreceptor cells and atrophy of the retinal pigment epithelium. Despite the involvement of more than 3000 mutations across approximately 90 genes in its onset, finding an effective treatment has been challenging for a considerable time. However, advancements in scientific research, especially in gene therapy, are significantly expanding treatment options for this most prevalent inherited eye disease, with the discovery of new compounds, gene-editing techniques, and gene loci offering hope for more effective treatments. Gene therapy, a promising technology, utilizes viral or non-viral vectors to correct genetic defects by either replacing or silencing disease-causing genes, potentially leading to complete recovery. In this review, we primarily focus on the latest applications of gene editing research in RP. We delve into the most prevalent genes associated with RP and discuss advancements in genome-editing strategies currently employed to correct various disease-causing mutations.

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Identification of RP1 as the genetic cause of retinitis pigmentosa in a multi-generational pedigree using Extremely Low-Coverage Whole Genome Sequencing (XLC-WGS)

Cited by 3 publications

References 59 publications

New insight in molecular detection of Mycobacterium tuberculosis

New insight in molecular detection of Mycobacterium tuberculosis

Discovery of a Novel Missense Mutation in the RIMS1 Gene Potentially Enhances the Severity of Retinitis Pigmentosa (RP) Caused by RP1 Mutation in Humans

Gene Therapy for Retinitis Pigmentosa: Current Challenges and New Progress

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