ArticleEndocrine2021
Clinical application of a novel next generation sequencing assay for CYP21A2 gene in 310 cases of 21- hydroxylase congenital adrenal hyperplasia from India.
Article in Endocrine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 31 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
- A Comprehensive Pipeline for the Use of Short Read Next-Generation Sequencing (SR-NGS) inCurrent issues in molecular biology · 2026Article
- Short-Read NGS of a Long-RangeInternational journal of molecular sciences · 2026Article
- Evolution of molecular diagnostic strategies for 21-hydroxylase deficiency: from classical methods to advanced genomic techniques.Frontiers in endocrinology · 2026Review
- Advocating Targeted Sequential Screening over Whole Exome Sequencing in 21-Hydroxylase Deficiency.Indian journal of pediatrics · 2025Article
- A Case of Salt-Wasting Congenital Adrenal Hyperplasia Caused by a Rare Intronic Variant in theInternational journal of molecular sciences · 2025Article
- Targeted long-read sequencing facilitates effective carrier screening for complex monogenic diseases including spinal muscular atrophy, α-/β-thalassemia, 21-hydroxylase deficiency, and fragile-X syndrome.Journal of translational medicine · 2025Article
- High clinical utility of long-read sequencing for precise diagnosis of congenital adrenal hyperplasia in 322 probands.Human genomics · 2025Article
- Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.Orphanet journal of rare diseases · 2024Article
- Article
- Characterization of the CYP21A2 Gene Mutations in Children with Classic Congenital Adrenal Hyperplasia.Indian journal of pediatrics · 2024Article
- Review
- Cost-effective genotyping for classical congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) in resource-poor settings: multiplex ligation probe amplification (MLPA) with/without sequential next-generation sequencing (NGS).Hormones (Athens, Greece) · 2023Article
- Neonatal Screening for Congenital Adrenal Hyperplasia in Indian Newborns with Reflex Genetic Analysis of 21-Hydroxylase Deficiency.International journal of neonatal screening · 2023Article
- Molecular Diagnosis of Steroid 21-Hydroxylase Deficiency: A Practical Approach.Frontiers in endocrinology · 2022Review
- Variant predictions in congenital adrenal hyperplasia caused by mutations in CYP21A2.Frontiers in pharmacology · 2022Article
- Molecular Analysis of 21-Hydroxylase Deficiency Reveals Two Novel Severe Genotypes in Affected Newborns.Molecular diagnosis & therapy · 2021Article
- The Spectrum ofIndian journal of endocrinology and metabolismArticle
- Prevalence of Congenital Adrenal Hyperplasia in South Indian Polycystic Ovarian Syndrome Women.Indian journal of endocrinology and metabolismArticle
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Authors and funding
21 authors at 10 institutions in 1 country.
Funding
Abstract
purposeAccurate diagnosis is required for management of Congenital adrenal hyperplasia (CAH). The conventional method for detection of mutations in the CYP21A2 gene is targeted capillary sequencing which is labor intensive and has limited multiplexing capability. Next generation sequencing (NGS) provides data with high sequence coverage and depth. Our objective was to develop an accurate NGS-based assay to characterize the mutation spectrum in CYP21A2 gene in Indian patients suspected to have 21-OH CAH.
methodsCases with 21-OH CAH from 12 endocrine units across India were studied. DNA was extracted from proband's and parent's(subset) blood. Locus-specific long-range PCR and gel electrophoresis of amplicons was followed by NGS where no visible 30 kb homozygous/whole gene deletion was observed. Orthogonal confirmation was performed by capillary sequencing (ABI 3500) and Multiplex Ligation-dependent Probe Amplification (MLPA, MRC-Holland). PCR products were purified and individual libraries were pooled and sequenced (Illumina).
resultsOf the 310 CAH cases, biallelic mutations (pathogenic/ likely pathogenic variants involving both CYP21A2 gene copies) were detected in 256 (82.6%), heterozygous mutations in 13 (4.2 %), and none in 41 (13.2%). Most common mutation was c.293-13A/C>G (29.03%), followed by 30 kb deletion (18.24%). Thirty samples tested orthogonally (by capillary sequencing or MLPA) showed 100% concordance with NGS assay. Nine novel variants were identified.
conclusionsWe have developed and validated a comprehensive NGS-based assay for detection of variants in CYP21A2 gene in patients with 21-OH CAH. We describe CYP21A2 mutation spectrum and novel variants in a large cohort of Indian patients with CAH.
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