21-Hydroxylase deficiency: Mutational spectrum and Genotype–Phenotype relations analyses by next-generation sequencing and multiplex ligation-dependent probe amplification

Turan, Ihsan; Tastan, Mehmet; Boga, Duygu D.; Gurbuz, Fatih; Kotan, Leman D.; Tuli, Abdullah; Yüksel, Bilgin

doi:10.1016/j.ejmg.2019.103782

Cited by 25Sexual Differentiation and DisordersAdrenal Hormones and DisordersMetabolism and Genetic Disorders

21-Hydroxylase deficiency: Mutational spectrum and Genotype–Phenotype relations analyses by next-generation sequencing and multiplex ligation-dependent probe amplification

Turan, Ihsan, Tastan, Mehmet, Boga, Duygu D., Gurbuz, Fatih, Kotan, Leman D., Tuli, Abdullah, Yüksel, Bilgin·2020·European Journal of Medical Genetics

DOI 10.1016/j.ejmg.2019.103782

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Abstract

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) is autosomal recessive disorder of cortisol biosynthesis. Genetic defects in CYP21A2 cause 21OHD. The aim of this study was to determine spectrum of mutations in CYP21A2 in a large cohort and analyze the genotype-phenotype correlation to assess predictive characteristics of genotype. We investigated a total of 113 patients with 21OHD. Next-generation sequencing and Multiplex ligation-dependent probe amplification of the CYP21A2 gene were performed in patients and their parents. The genotypes were categorized into Groups 0, A, B, and C according to the residual 21-hydroxylase activities. In this study, the group A was divided into two subgroups as A1 and A2. Three novel variants were found. The genotype-phenotype correlation of the mutation classification was 91.5%. Positive predictivity of subgroups A1 was higher than groups A and subgroups A2. Our study reports genotype-phenotype correlations in the largest 21OHD cohort in Turkey. This correlation sustained when we analyzed our data in combination with metadata from other published studies. This study confirms that CYP21A2 genotyping with next-generation sequencing and MLPA can accurately and reliably confirm the diagnosis of 21OHD. We propose a new classification by dividing group A into two new subgroups to better predict the phenotype. In light of this very high genotype-phenotype correlation, with their ever-increasing availability, declining cost, and turnaround time, we propose that molecular genetic studies can be more economical and practical alternative to the current initial diagnostic laboratory studies based on assays of intermediary steroid metabolites.

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NGS enables simultaneous analysis of multiple genes with high throughput and reduced cost per base.
“The introduction of NGS technologies seemed promising for molecular diagnostics since it enables simultaneous analysis of multiple genes with high throughput and reduced cost per base (81, 82).”
From Evolution of molecular diagnostic strategies for 21-hydroxylase deficiency: from classical methods to advanced genomic techniques (2026) · cites this paper as [81]
A combination of laboratory and bioinformatics strategies, including pseudogene masking, locus-specific long-range PCR, and targeted hybrid-capture panels, improves CYP21A2-specific resolution and enables accurate variant calling.
“To overcome these limitations, a combination of laboratory and bioinformatics strategies is commonly employed to improve CYP21A2-specific resolution, including pseudogene masking during data analysis, locus-specific long-range PCR for selective amplification, and targeted hybrid-capture panels prior to library preparation (81, 82, 85).”
From Evolution of molecular diagnostic strategies for 21-hydroxylase deficiency: from classical methods to advanced genomic techniques (2026) · cites this paper as [81]

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Authors: Turan, I., Tastan, M., Boga, D. D., Gurbuz, F., Kotan, L. D., Tuli, A., & Yüksel, B.
Affiliations: Cukurova University (TR)
Corresponding author: Yüksel, Bilgin
ORCID: Kotan, Leman D.
Tuli, Abdullah
Yüksel, Bilgin
Venue: European Journal of Medical Genetics
Publisher: Elsevier BV
Published: 2020-04
Volume: 63
Issue: 4
Pages: 103782
ISSN: 1769-7212 (ISSN-L)
DOI: 10.1016/j.ejmg.2019.103782
OpenAlex: W2978426286
Cited by: 25
References: 30
Citations by year: 2026: 3 · 2025: 7 · 2024: 3 · 2023: 1 · 2022: 4 · 2021: 4 · 2020: 3
FWCI: 0.91
Type: journal article
Language: en
Open access: closed
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/legal/tdmrep-license (tdm)
Locations: European Journal of Medical Genetics (publishedVersion)
PubMed (publishedVersion)
AYBU AVESIS (submittedVersion)
Funders: Türkiye Bilimsel ve Teknolojik Araştirma Kurumu (108S236)
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, mutation spectrum, genotype-phenotype correlation, genotype classification, novel variants, molecular diagnosis
MeSH terms: Adrenal Hyperplasia, Congenital, Humans, Mutation, Steroid 21-Hydroxylase, Cohort Studies, Genetic Association Studies, High-Throughput Nucleotide Sequencing, Multiplex Polymerase Chain Reaction

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21-Hydroxylase deficiency: Mutational spectrum and Genotype–Phenotype relations analyses by next-generation sequencing and multiplex ligation-dependent probe amplification

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