Genotype-phenotype correlation study and mutational and hormonal analysis in a Chinese cohort with 21-hydroxylase deficiency
Open accessAbstract
BACKGROUND: Steroid 21-hydroxylase deficiency (21OHD) is the most common enzymatic defect, but the genotype-phenotype associations have not been well established in Chinese patients. Here, a Chinese 21OHD cohort was enrolled to investigate the clinical, biochemical, and genetic characteristics of this disorder. METHODS: Mutation analysis of CYP21A2 gene, 21-hydroxylase activity assays and in silico predictions of protein structure were performed. Genotype-phenotype associations were analyzed in both the cohort and 487 Chinese CAH patients ever reported. RESULTS: Among the total cohort (72 patients), 47 patients (65.3%) were diagnosed as salt-wasting (SW) phenotype, 11 (15.3%) were simple virilizing (SV) type, and 14 (19.4%) were nonclassic (NC) type. The value of FSH and LH for prediction of the SW phenotype was up to 0.862 and 0.669, respectively. Overall, the detection rate of CYP21A2 mutation was 97.9%, which revealed 25 mutations and 36 genotypes. Four novel mutations (p.L199X, p.E321del, p.H393Q, and p.L459-P464del) were detected and induced a significantly reduced 21-hydroxylase activity. Generally, disease severity can be predicted with the genotypes. The most common genotypes in Chinese population were I2G/I2G (12.5%), I2G/Large lesion (12.1%), I173N/I2G (10.3%), and I173N/Large lesion (9.2%). The SW form of CAH is prominent in deletion or intronic splice mutations, namely I2G/I2G (18.6%), I2G/Large lesion (17.2%) and Large lesion/Large lesion (8.6%). CONCLUSION: Four novel mutations were identified and a high consistency of genotype-phenotype association was found in SW CAH. Moreover, FSH and LH levels were proved to be a promising marker for predicting the severity of the disease.
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The pathogenic IVS2-13A/C > G comprises 20 to 25% of CYP21A2 mutant alleles and translates to the most severe SW forms of the disease when inherited in homozygosity.
“Several reports in European, Mediterranean, Middle Eastern, and Chinese populations confirmed a high frequency of the pathogenic IVS2-13A/C > G and found it to comprise 20 to 25% of the CYP21A2 mutant alleles and to translate to the most severe SW forms of the disease when inherited in homozygosity [1, 4, 27, 39–43].”
From Salt-wasting congenital adrenal hyperplasia phenotype as a result of the TNXA/TNXB chimera 1 (CAH-X CH-1) and the pathogenic IVS2-13A/C > G in CYP21A2 gene (2023) · cites this paper as [41]
The Discussion reports I2G (IVS2-13A/C > G) at 22.9% across populations, but 33.9% in the Chinese patients analyzed—not 20–25% in that population. The Methods describe I2G as typically associated with salt-wasting CAH, and the Results place the homozygous I2G/I2G genotype among the severe salt-wasting forms. Thus the phenotype attribution is supported, but the stated frequency does not hold for this paper’s Chinese population. (LLM, conf=0.88)
Experimental — accuracy not yet measuredCYP21A2 gene duplications are relatively common in some populations.
“CYP21A2 gene duplications are relatively common in some populations (214,215).”
From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [214]
In Results, Table 1 groups CYP21A2 deletions, duplications, and rearrangements as “large lesions,” accounting for 20.6% of mutated alleles in a Chinese cohort with 21-hydroxylase deficiency. It does not give a separate frequency for gene duplications or establish that they are relatively common in any population. (LLM, conf=0.78)
Experimental — accuracy not yet measuredAlleles carrying a CYP21A2 gene duplication with a p.Gln318X mutation in the duplicated gene next to TNXB and a wild-type CYP21A2 next to TNXA are non-disease causing but can be easily misinterpreted.
“Importantly, such alleles are non-disease causing, but can be easily misinterpreted (214).”
From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [214]
The Results (Mutational analysis of the CYP21A2 gene, page unavailable) list Q319X and gene duplications, but do not describe the claimed allele arrangement. Searches for TNXA/TNXB, a wild-type copy alongside a mutated duplicate, and diagnostic misinterpretation found no passage addressing whether that arrangement is non-disease-causing or easily misinterpreted. (LLM, conf=0.76)
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Additional file 4 of Genetic aetiology of primary adrenal insufficiency in Chinese children
Chang, Z., Lu, W., 赵诸慧, Xi, L., Li, X., Ye, R., 倪锦文, Zhou, P., Zhang, M., Cheng, R., et al. (2021) · Figshare · doi:10.6084/m9.figshare.14889537
Additional file 3 of Genetic aetiology of primary adrenal insufficiency in Chinese children
Chang, Z., Lu, W., 赵诸慧, Xi, L., Li, X., Ye, R., 倪锦文, Zhou, P., Zhang, M., Cheng, R., et al. (2021) · Figshare · doi:10.6084/m9.figshare.14889534
Additional file 1 of Genetic aetiology of primary adrenal insufficiency in Chinese children
Chang, Z., Lu, W., 赵诸慧, Li, X., Li, X., Ye, R., 倪锦文, Zhou, P., Zhang, M., Cheng, R., et al. (2021) · Figshare · doi:10.6084/m9.figshare.14889528
Additional file 7 of Genetic aetiology of primary adrenal insufficiency in Chinese children
Chang, Z., Lu, W., 赵诸慧, Xi, L., Li, X., Ye, R., 倪锦文, Zhou, P., Zhang, M., Cheng, R., et al. (2021) · Figshare · doi:10.6084/m9.figshare.14889546
Additional file 6 of Genetic aetiology of primary adrenal insufficiency in Chinese children
Chang, Z., Lu, W., 赵诸慧, Li, X., Li, X., Ye, R., 倪锦文, Zhou, P., Zhang, M., Cheng, R., et al. (2021) · Figshare · doi:10.6084/m9.figshare.14889543
Additional file 2 of Genetic aetiology of primary adrenal insufficiency in Chinese children
Chang, Z., Lu, W., 赵诸慧, Xi, L., Li, X., Ye, R., 倪锦文, Zhou, P., Zhang, M., Cheng, R., et al. (2021) · Figshare · doi:10.6084/m9.figshare.14889531
Additional file 5 of Genetic aetiology of primary adrenal insufficiency in Chinese children
Chang, Z., Lu, W., 赵诸慧, Xi, L., Li, X., Ye, R., 倪锦文, Zhou, P., Zhang, M., Cheng, R., et al. (2021) · Figshare · doi:10.6084/m9.figshare.14889540
GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disorders
Rekerle, L., Danis, D., Rehburg, F., Graefe, A. S. L., Bílý, V., Caballero-Oteyza, A., Cacheiro, P., Chimirri, L., Chong, J. X., Connelly, E., et al. (2025) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2025.12.001
Interpreting human genetic variation at atomic resolution
Zimmermann, M. T., & Urrutia, R. A. (2026) · Nature Genetics · doi:10.1038/s41588-026-02763-z
- Authors
- Xu, C., Jia, W., Cheng, X., Ying, H., Chen, J., Xu, J., Guan, Q., Zhou, X., Zheng, D., Li, G., & Zhao, J.
- Affiliations
- Shandong University (CN)
- Shandong Provincial QianFoShan Hospital (CN)
- Corresponding author
- Xu, Chao
- Li, Guimei
- Zhao, Jiajun
- Venue
- Molecular Genetics & Genomic Medicine
- Publisher
- Wiley
- Published
- 2019-04-09
- Volume
- 7
- Issue
- 6
- Pages
- e671-e671
- ISSN
- 2324-9269 (ISSN-L)
- PMC
- PMC6565591
- OpenAlex
- W2940433375
- Cited by
- 29
- References
- 38
- Citations by year
- 2026: 1 · 2025: 2 · 2024: 2 · 2023: 3 · 2022: 4 · 2021: 15 · 2020: 1 · 2019: 1
- FWCI
- 1.74
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- Molecular Genetics & Genomic Medicine (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Funders
- National Natural Science Foundation of China (81370891, 81670720)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Keywords
- 21-hydroxylase deficiency, congenital adrenal hyperplasia, CYP21A2 mutations, genotype-phenotype correlation, salt-wasting phenotype, novel mutations, FSH and LH levels, disease severity prediction, Chinese patients, splicing mutation
- MeSH terms
- Adolescent, Adrenal Hyperplasia, Congenital, Adult, Alleles, Child, Child, Preschool, China, DNA Mutational Analysis, Female, Genotype, Humans, Infant, Infant, Newborn, Male, Mutation, Phenotype, Steroid 21-Hydroxylase, Cohort Studies, Biomarkers, Point Mutation, Asian People, Genetic Association Studies
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