AI Article Synopsis
- Scientists found around 50 special genetic disorders caused by short tandem repeats (STRs), but labs don't usually check them in a certain type of genetic testing called exome analysis.
- They studied the DNA of 6099 people from 2510 families to see if they could find any missed STR disorders, which helped diagnose 13 people in families that had never received a diagnosis before.
- The study suggests that including STR analysis in genetic testing can help doctors find more genetic problems in patients.
Article Abstract
To date, approximately 50 short tandem repeat (STR) disorders have been identified; yet, clinical laboratories rarely conduct STR analysis on exomes. To assess its diagnostic value, we analyzed STRs in 6099 exomes from 2510 families with mostly suspected neurogenetic disorders. We employed ExpansionHunter and REViewer to detect pathogenic repeat expansions, confirming them using orthogonal methods. Genotype-phenotype correlations led to the diagnosis of thirteen individuals in seven previously undiagnosed families, identifying three autosomal dominant disorders: dentatorubral-pallidoluysian atrophy (n = 3), spinocerebellar ataxia type 7 (n = 2), and myotonic dystrophy type 1 (n = 2), resulting in a diagnostic gain of 0.28% (7/2510). Additionally, we found expanded ATXN1 alleles (≥39 repeats) with varying patterns of CAT interruptions in twelve individuals, accounting for approximately 0.19% in the Korean population. Our study underscores the importance of integrating STR analysis into exome sequencing pipeline, broadening the application of exome sequencing for STR assessments.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11061289 | PMC |
| http://dx.doi.org/10.1038/s41431-024-01542-w | DOI Listing |
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