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Published on: June 3, 2019
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Characterization of STRC Gene Conversions by Nanopore Sequencing
Chiara Rigon1,2, Ugo Sorrentino1,3, Sara Volta1,4
1Department of Women's and Children's Health, University of Padova, Padova, Italy.
Clinical Chemistry
|February 16, 2026
Summary
Long-read sequencing precisely characterized STRC-STRCP1 gene conversions, a common cause of hearing loss. This method overcomes limitations of standard techniques for accurate genetic testing.
Area of Science:
- Genetics
- Genomic Medicine
Background:
- Biallelic loss-of-function variants in the STRC gene cause nonsyndromic hearing loss.
- High homology between STRC and its pseudogene STRCP1 complicates variant interpretation.
- Previous methods inferred STRC-STRCP1 gene conversions but lacked detailed structural resolution.
Purpose of the Study:
- To characterize the breakpoints of STRC-STRCP1 gene conversions using long-read sequencing.
- To improve the molecular characterization of gene conversion events in hearing loss genetics.
Main Methods:
- Nanopore sequencing was performed on three specimens with suspected STRC-STRCP1 gene conversions.
- Long-range PCR was used to selectively amplify rearranged STRC alleles.
- Sequence alignment of long reads identified mismatch patterns to delineate conversion breakpoints.
Main Results:
- Nanopore sequencing confirmed STRC-STRCP1 gene conversion mechanisms in all analyzed specimens.
- One specimen showed STRC exon replacement (exons 12-23) by STRCP1 sequences.
- Two specimens exhibited conversions involving terminal STRC exons and the adjacent CKMT1B gene.
Conclusions:
- The developed approach accurately characterizes STRC-STRCP1 gene conversions, overcoming conventional technique limitations.
- These findings highlight the clinical significance of STRC-STRCP1 gene conversions in hearing loss.
- Nanopore sequencing demonstrates significant diagnostic potential for genetic testing of complex rearrangements.
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