ArticleThe Journal of international medical research2017
Molecular diagnosis of Chinese patients with 21-hydroxylase deficiency and analysis of genotype-phenotype correlations.
Article in The Journal of international medical research, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 34 citations in OpenAlex.
- Molecular Landscape of Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency in India.Indian journal of pediatrics · 2026Article
- Functional analysis of 11 CYP21A2 variants reveals greater loss of enzyme activity in cis variants and improves genotype-phenotype correlation in 21-hydroxylase deficiency.Journal of endocrinological investigation · 2026Article
- Neonatal Screening for Congenital Adrenal Hyperplasia in Guangzhou: 7 Years of Experience.International journal of neonatal screening · 2025Article
- Long-read sequencing transforms the diagnosis of congenital adrenal hyperplasia: resolving pseudogene interference and structural variations.Frontiers in pediatrics · 2025Article
- Approaching fertility in congenital adrenal hyperplasia: exploring P30L mutation-induced 21-hydroxylase deficiency with a presentation between non-classical and simple virilizing phenotypes. A case report.Medicine and pharmacy reports · 2024Article
- Molecular analysis and genotype-phenotype correlations in patients with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency from southern Poland - experience of a clinical center.Hormones (Athens, Greece) · 2022Article
- Cardiometabolic Health in Adolescents and Young Adults with Congenital Adrenal Hyperplasia.Medicina (Kaunas, Lithuania) · 2022Article
- The underlying cause of the simple virilizing phenotype in patients with 21-hydroxylase deficiency harboring P31L variant.Frontiers in endocrinology · 2022Article
- Genetic aetiology of primary adrenal insufficiency in Chinese children.BMC medical genomics · 2021Article
- A Case of Salt-Wasting Congenital Adrenal Hyperplasia with Triple Homozygous Mutation: Review of Literature.Journal of pediatric genetics · 2021Article
- Non-Classical 21-Hydroxylase Deficiency: Analysis of a Mutant Gene in a Uyghur Family and Literature Review.Pharmacogenomics and personalized medicine · 2021Article
- Clinical outcomes and characteristics of P30L mutations in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.Endocrine · 2020Review
- Newborn Screening for Congenital Hypothyroidism, Congenital Adrenal Hyperplasia, and Glucose-6-Phosphate Dehydrogenase Deficiency for Improving Health Care in India.Journal of pediatric intensive care · 2020Article
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3 authors at 2 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
Objective The spectrum of molecular defects in Chinese patients with 21-hydroxylase deficiency (21-OHD), and genotype-phenotype relationships are unknown. Methods We screened eight patients with non-classical (NC) 21-OHD and 35 with classical 21-OHD, and detected nine known mutations. Results The most frequent mutation among the 43 21-OHD cases was p.Ile172Asn (allele frequency, 36.0%), followed by c.290-13A/C > G (20.9%), Del (8.6%), p.Pro30Leu (7.0%), p.Gln318Ter (7.0%), p.Val281Leu (4.7%), p.Arg356Trp (2.3%), p.[Ile236Asn; Val237Glu; Met239Lys] (2.3%), and E3Δ8 bp (1.2%). The frequency spectrum of CYP21A2 mutations in the Chinese population was similar to that in the Japanese population, except that p.Val281Leu was identified in Chinese NC21-OHD patients at a frequency of 25.0%, whereas it was absent in Japanese patients. We found that genotype could predict phenotype in 88.3% of patients. Conclusion Some characteristics appear to be unique to the Chinese population, but genotype was strongly predictive of phenotype.
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