Long-Read Sequencing Solves Complex Structure of CYP21A2 in a Large 21-Hydroxylase Deficiency Cohort
Authors' conclusion
LRS can detect all types of CYP21A2 variants, including complex chimeras and pathogenic variants on multiple copies in patients with 21-OHD, which could be utilized as a first-tier routine test for the precision diagnosis and categorization of congenital adrenal hyperplasia.
Study context
- Population
- Patients with 21-hydroxylase deficiency (21-OHD)144 + 8 cases by long-read sequencing (LRS)
- Participants
- 832 patients
- Comparison
- LRS vs current approaches
- Outcome
- Chimeric alleles identified (LRS with previous genetic tests)
Performance
As reported in the abstract
- CYP21A1P/CYP21A2 or TNXA/TNXB chimeric alleles
- 16.9% (281/1664)
- CYP21A1P/CYP21A2 chimeras
- 10.4%
- TNXA/TNXB chimeras
- 6.5%
- Top 3 chimeras (CYP21 CH-1, TNX CH-1, TNX CH-2) among all chimeric alleles
- 77.2% (217/281)
- Patients with variants on multiple CYP21A2 copies accurately identified with LRS
- 8
Further findings
Precise molecular diagnosis by current approaches
- Cases diagnosed by current approaches
- 81.7% (680/832)
CAH-X
- Prevalence of CAH-X
- 12.1%
- High frequency of connective tissue-related symptoms in CAH-X patients
Original publication
Long-Read Sequencing Solves Complex Structure of CYP21A2 in a Large 21-Hydroxylase Deficiency Cohort. J Clin Endocrinol Metab. Published 25 July 2024. doi:10.
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