Narrative Review: Update on the Molecular Diagnosis of Fragile X Syndrome

Identification of tandem repeat (TR) variations plays a crucial role in advancing our understanding of genetic diseases, forensic analysis, evolutionary studies, and crop improvement, thereby contributing to various fields of research and practical applications. However, traditional TR identification methods are often limited to processing genomes obtained through sequence assembly and cannot directly start detection from sequencing reads. Furthermore, the inflexibility of detection mode and parameters hinders the accuracy and completeness of the identification, rendering the results unsatisfactory. These shortcomings result in existing TR variation identification methods being associated with high computational cost, limited detection sensitivity, precision and comprehensiveness. Here, we propose DeepTRs, a novel method for identifying TR variations, which enables direct TR variation identification from raw Nanopore sequencing reads and achieves high sensitivity, accuracy, and completeness results through the multi-modal conversion of Nanopore reads alignment and deep learning. Comprehensive evaluations demonstrate that DeepTRs outperform existing methods.

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Epigenetic insights into Fragile X Syndrome

Xie,

Li,

Xiao

et al. 2024

Front. Cell Dev. Biol.

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Fragile X Syndrome (FXS) is a genetic neurodevelopmental disorder closely associated with intellectual disability and autism spectrum disorders. The core of the disease lies in the abnormal expansion of the CGG trinucleotide repeat sequence at the 5′end of the FMR1 gene. When the repetition exceeds 200 times, it causes the silencing of the FMR1 gene, leading to the absence of the encoded Fragile X mental retardation protein 1 (FMRP). Although the detailed mechanism by which the CGG repeat expansion triggers gene silencing is yet to be fully elucidated, it is known that this process does not alter the promoter region or the coding sequence of the FMR1 gene. This discovery provides a scientific basis for the potential reversal of FMR1 gene silencing through interventional approaches, thereby improving the symptoms of FXS. Epigenetics, a mechanism of genetic regulation that does not depend on changes in the DNA sequence, has become a new focus in FXS research by modulating gene expression in a reversible manner. The latest progress in molecular genetics has revealed that epigenetics plays a key role in the pathogenesis and pathophysiological processes of FXS. This article compiles the existing research findings on the role of epigenetics in Fragile X Syndrome (FXS) with the aim of deepening the understanding of the pathogenesis of FXS to identify potential targets for new therapeutic strategies.

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Narrative Review: Update on the Molecular Diagnosis of Fragile X Syndrome

Cited by 3 publications

References 96 publications

Clinical and molecular characteristics of FMR1 microdeletion in patient with fragile X syndrome and review of the literature

Clinical and molecular characteristics of FMR1 microdeletion in patient with fragile X syndrome and review of the literature

Deep Learning Enhanced Tandem Repeat Variation Identification via Multi-Modal Conversion of Nanopore Reads Alignment

Epigenetic insights into Fragile X Syndrome

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