Chimeric <i>CYP21A1P/CYP21A2</i> Genes in 21-Hydroxylase Deficiency Detected by Long-Read Sequencing and Phenotypes Correlation
LRS is a comprehensive genetic testing method for 21-OHD patients, effectively detecting both CYP21A2 gene variants and CYP21A1P/CYP21A2 chimeric gene types. This study expands the CYP21A2 variant spectrum by identifying a novel chimera. Haplotype analysis revealed diverse haplotypes for each chimeric gene type, suggesting the absence of a common founder effect. The strong genotype-phenotype correlation aids genetic counseling and supports personalized treatment.
Authors
- Anli Tong (ORCID: https://orcid.org/0000-0002-1418-1012)
- Min Nie (ORCID: https://orcid.org/0000-0001-7179-0044)
- Wei Zhang (ORCID: https://orcid.org/0000-0001-5292-7308)
- Shi Chen (ORCID: https://orcid.org/0000-0002-8965-1015)
- Jiangfeng Mao (ORCID: https://orcid.org/0000-0003-0157-1545)
- Yinjie Gao
- Lin Lü (ORCID: https://orcid.org/0000-0003-3379-8277)
- Xi Wang (ORCID: https://orcid.org/0009-0004-9115-8539)
- Xiaoxia Zhang (ORCID: https://orcid.org/0000-0001-5270-6775)
- Xueyan Wu (ORCID: https://orcid.org/0000-0002-9369-8430)
- Yaqing Cao
Institutions
- Chinese Academy of Medical Sciences & Peking Union Medical College (CN)
- Peking Union Medical College Hospital (CN)
Publication Details
- Journal
- The Journal of Clinical Endocrinology & Metabolism
- Published
- 2025-02-04
- DOI
- https://doi.org/10.1210/clinem/dgae819
- Citations
- 3
- Primary Topic
- Sexual Differentiation and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 2.42
Funders
- National Natural Science Foundation of China