RFC1: Motifs and phenotypes
V Delforge1, C Tard2, J-B Davion2
1Inserm, U1172 - LilNCog - Lille Neuroscience & Cognition, CHU de Lille, University Lille, 59000 Lille, France.
Revue Neurologique
|April 16, 2024
Summary
Biallelic intronic expansions in the RFC1 gene are a common cause of late-onset ataxia. This review clarifies RFC1 gene variants, phenotypes, and diagnostic challenges for better understanding of this complex neurological disorder.
Area of Science:
- Genetics
- Neurology
- Molecular Biology
Background:
- Biallelic intronic expansions (AAGGG)exp in intron 2 of the RFC1 gene are a frequent cause of late-onset ataxia.
- The RFC1 gene's associated phenotypes, neurological damage, and pathogenic variants are continually being updated.
Purpose of the Study:
- To review the diverse motifs, genetic variants, and phenotypes linked to the RFC1 gene.
- To provide insights into RFC1-associated disease, aiding molecular diagnosis and clinical understanding.
Main Methods:
- Systematic literature search of PubMed for articles published between March 1st, 2019, and January 15th, 2024.
- Review and synthesis of information on RFC1 gene motifs, variants, phenotypes, and diagnostic approaches.
Main Results:
- RFC1 gene motifs and associated phenotypes exhibit significant heterogeneity.
- This heterogeneity complicates molecular diagnosis, clinical screening, and investigation of RFC1-related disorders.
Conclusions:
- A comprehensive understanding of RFC1 gene variations and phenotypes is crucial for accurate diagnosis.
- Further research into diagnostic methods and the pathophysiology of RFC1 disease, including symptoms like cough, is warranted.
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