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Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency
Open accessAbstract
Over the last two decades, we have extensively studied the genetics of congenital adrenal hyperplasia caused by 21-hydroxylase deficiency (CAH) and have performed 8,290 DNA analyses of the CYP21A2 gene on members of 4,857 families at risk for CAH—the largest cohort of CAH patients reported to date. Of the families studied, 1,507 had at least one member affected with one of three known forms of CAH, namely salt wasting, simple virilizing, or nonclassical CAH. Here, we report the genotype and phenotype of each affected patient, as well as the ethnic group and country of origin for each patient. We showed that 21 of 45 genotypes yielded a phenotypic correlation in our patient cohort. In particular, contrary to what is generally reported in the literature, we found that certain mutations, for example, the P30L, I2G, and I172N mutations, yielded different CAH phenotypes. In salt wasting and nonclassical CAH, a phenotype can be attributed to a genotype; however, in simple virilizing CAH, we observe wide phenotypic variability, particularly with the exon 4 I172N mutation. Finally, there was a high frequency of homozygous I2G and V281L mutations in Middle Eastern and Ashkenazi Jewish populations, respectively. By identifying the predominant phenotype for a given genotype, these findings should assist physicians in prenatal diagnosis and genetic counseling of parents who are at risk for having a child with CAH.
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“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 [27]
In the citing paper
“In European and North American population, where long-standing newborn screening programs facilitate early detection, large gene deletions and CYP21A1P/CYP21A2 chimeric conversions, predominantly associated with SW phenotypes, constitute 20-30% of pathogenic alleles (25, 28, 30, 31).”
From Evolution of molecular diagnostic strategies for 21-hydroxylase deficiency: from classical methods to advanced genomic techniques (2026) · cites this paper as [28]
In the citing paper
“Nevertheless, population-based studies continue to reveal rare or population-specific alleles, highlighting the extensive allelic heterogeneity of 21-OHD and the necessity of using ethnically tailored genetic panels for accurate diagnosis and effective genetic counseling (5, 16, 19, 22, 28, 33–35).”
From Evolution of molecular diagnostic strategies for 21-hydroxylase deficiency: from classical methods to advanced genomic techniques (2026) · cites this paper as [28]
In the citing paper
“Importantly, genotype-phenotype discordance in CAH reflects not only the primary CYP21A2 pathogenic variant but also allelic configuration (cis/trans), promoter strength, splicing efficiency, copy number variation, and extra-adrenal metabolism.”
From Evolution of molecular diagnostic strategies for 21-hydroxylase deficiency: from classical methods to advanced genomic techniques (2026) · cites this paper as [28]
In the citing paper
“The discovery of POR deficiency in 2004 15,16 provided an explanation for multiple hormonal deficiency initially known as apparent combined 17OH and 21OH deficiency.”
From Congenital adrenal hyperplasia (2017) · cites this paper as [16]
In the citing paper
“and the prenatal virilization of affected females.16”
From Congenital adrenal hyperplasia (2017) · cites this paper as [16]
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Metadata
- Authors
- New, M. I., Abraham, M., Gonzalez, B., Dumic, M., Razzaghy-Azar, M., Chitayat, D., Sun, L., Zaidi, M., Wilson, R. C., & Yuen, T.
- Affiliations
- Pediatrics and Genetics (US)
- Department of Pediatrics, University Hospital Centre Zagreb, 10000 Zagreb, Croatia;
- Endocrinology and Metabolism Research Center, Tehran University of Medical Sciences, Tehran, Iran;
- Hospital for Sick Children (CA)
- Icahn School of Medicine at Mount Sinai (US)
- Medical University of South Carolina (US)
- Venue
- Proceedings of the National Academy of Sciences
- Publisher
- National Academy of Sciences
- Published
- 2013-01-28
- Volume
- 110
- Issue
- 7
- Pages
- 2611-2616
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- PMC
- PMC3574953
- OpenAlex
- W2135707678
- Cited by
- 365
- References
- 42
- Citations by year
- 2026: 23 · 2025: 31 · 2024: 28 · 2023: 33 · 2022: 25 · 2021: 36 · 2020: 24 · 2019: 31 · 2018: 19 · 2017: 27 · 2016: 29 · 2015: 25 · 2014: 20 · 2013: 13
- FWCI
- 13.00
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Proceedings of the National Academy of Sciences (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institute on Aging (R01AG040132, AG-23176, AG40132, R01AG023176)
- National Institute of Diabetes and Digestive and Kidney Diseases (DK80459, R01DK080459)
- National Center for Research Resources (454RR19484, U54RR019484)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (R37HD000072, IT32HD41895, T32HD041895, 7R37HD00072)
- Topics
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › 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
- congenital adrenal hyperplasia, 21-hydroxylase deficiency, CYP21A2 gene, genotype-phenotype correlation, salt-wasting CAH, simple virilizing CAH, Ashkenazi Jewish population, Middle Eastern populations, genetic counseling, prenatal diagnosis
- MeSH terms
- Adrenal Hyperplasia, Congenital, Ethnicity, Gene Frequency, Genotype, Humans, Models, Genetic, Mutation, New York, Phenotype, Steroid 21-Hydroxylase, Cohort Studies, Gene Deletion
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