Clinical and Molecular Profiles of a Cohort of Egyptian Patients with Collagen VI-Related Dystrophy
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View abstract on PubMed
Summary
This summary is machine-generated.This study identifies genetic variants in collagen VI genes (COL6A1, COL6A2, COL6A3) in Egyptian patients with progressive muscle weakness, revealing diverse disease severities and inheritance patterns for collagen VI-related dystrophies.
Area Of Science
- Genetics
- Molecular Biology
- Neuromuscular Disorders
Background
- Collagen VI-related dystrophies (COL6-RD) encompass a spectrum from Bethlem myopathy (BM) to Ullrich congenital muscular dystrophy (UCMD).
- These conditions exhibit genetic variability and dual inheritance modes (dominant and recessive).
- Understanding the genetic basis is crucial for diagnosis and management.
Purpose Of The Study
- To investigate the genetic variants in collagen VI genes (COL6A1, COL6A2, COL6A3) in Egyptian patients with progressive muscle weakness.
- To characterize the clinical spectrum and inheritance patterns of COL6-RD in this cohort.
- To report novel pathogenic variants associated with COL6-RD.
Main Methods
- Next-generation sequencing was employed to analyze genes encoding the three alpha chains of collagen VI.
- Patients were clinically assessed and diagnosed with UCMD, BM, or intermediate forms based on onset and disease course.
- Variants were classified according to ACMG guidelines.
Main Results
- Twenty-three Egyptian patients with progressive muscle weakness were studied.
- Fourteen pathogenic variants, including 5 novel alterations, were identified in COL6A1, COL6A2, or COL6A3.
- Variants included missense, frameshift, splicing, nonsense, and inframe types, with both dominant (8 families) and recessive (9 families) inheritance observed.
- Clinical diagnoses included 12 UCMD, 8 BM, and 3 intermediate forms, demonstrating significant inter- and intra-familial variability.
Conclusions
- This study presents the first clinical and genetic findings of collagen VI deficiency in an Egyptian cohort.
- Genetic variants in collagen VI genes are associated with a wide spectrum of muscle weakness, from BM to UCMD.
- The findings highlight the importance of genetic testing for accurate diagnosis and understanding the variability in COL6-RD.
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