Spliceosomal Syndromes: Phenotypes and Mechanisms

In the field of genetic research, the intriguing phenomenon of RNA splicing has shown that while nearly all genes experience this modification, anomalies in splicing machinery impact only select tissues in newborns, children and adults. Recent examinations reveal that tissues like bones and the retina are particularly vulnerable to these spliceosomal defects. Notably, the specific influence on bone structure varies with different spliceosomal genes, a diversity observed in skeletal dysplasia. Over the last decade, several congenital anomalies have been classified under spliceosomal syndromes, showcasing a range of inherited patterns and manifestations.

This Research Topic aims to dive deep into two critical questions that hold the potential to shift current therapeutic strategies. Firstly, we seek to uncover the mechanisms of tissue-specific phenotypic manifestations in spliceosomal syndromes. Clarifying how these defects selectively impact certain tissues may illuminate broader biological mechanics and highlight new therapy targets. Secondly, we're interested in identifying the particular gene splicings that are crucial to the phenotypes associated with these defects, which could revolutionize the approach to treatment and understanding of spliceosomal syndromes.

To gather further insights into spliceosomal irregularities, we welcome articles addressing, but not limited to, the following themes:

• Investigating spliceosomal defects using in vitro methods
• Utilizing model animals to study spliceosomal pathways
• Transcriptomic profiling in spliceosomal syndromes
• Advanced techniques for unravelling the molecular mechanisms of spliceosomal syndromes

By facilitating robust discussions and explorations within this sophisticated area of genetics, we look forward to contributions that advance our understanding and lead to significant clinical applications.

A full list of accepted article types, including descriptions, can be found at this
Please note: Descriptive studies and studies consisting solely of bioinformatic investigation of publicly available genomic / transcriptomic data do not fall within the scope of the journal unless they are expanded and provide significant biological or mechanistic insight into the process being studied.

Article types and fees

This Research Topic accepts the following article types, unless otherwise specified in the Research Topic description:

• Brief Research Report
• Data Report
• Editorial
• FAIR² Data
• FAIR² DATA Direct Submission
• General Commentary
• Hypothesis and Theory
• Methods
• Mini Review
• ... View all formats

Articles that are accepted for publication by our external editors following rigorous peer review incur a publishing fee charged to Authors, institutions, or funders.

Article types

This Research Topic accepts the following article types, unless otherwise specified in the Research Topic description:

• Brief Research Report
• Data Report
• Editorial
• FAIR² Data
• FAIR² DATA Direct Submission
• General Commentary
• Hypothesis and Theory
• Methods
• Mini Review
• Opinion
• Original Research
• Perspective
• Review
• Technology and Code

Keywords: Spliceosomal Syndrome, Splicing Abnormalities, Spliceosomal Defects, Splicing Defects, Transcriptomic Analysis

Important note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.