ArticleIndian journal of endocrinology and metabolism2012
Molecular genetic analysis of CYP21A2 gene in patients with congenital adrenal hyperplasia.
Article in Indian journal of endocrinology and metabolism, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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17 citing papers in PubMed, 33 citations in OpenAlex.
- Molecular Landscape of Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency in India.Indian journal of pediatrics · 2026Article
- Advocating Targeted Sequential Screening over Whole Exome Sequencing in 21-Hydroxylase Deficiency.Indian journal of pediatrics · 2025Article
- Emphasizing the need for preconceptional, prenatal genetic counseling and comprehensive genetic testing in consanguinity: challenges and experience.Molecular genetics and genomics : MGG · 2024Article
- Article
- Characterization of the CYP21A2 Gene Mutations in Children with Classic Congenital Adrenal Hyperplasia.Indian journal of pediatrics · 2024Article
- Neonatal Screening for Congenital Adrenal Hyperplasia in Indian Newborns with Reflex Genetic Analysis of 21-Hydroxylase Deficiency.International journal of neonatal screening · 2023Article
- Syrian females with congenital adrenal hyperplasia: a case series.Journal of medical case reports · 2022Article
- Article
- Characteristics of In2G Variant in Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.Frontiers in endocrinology · 2021Review
- Clinical outcomes and characteristics of P30L mutations in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.Endocrine · 2020Review
- A unique haplotype of RCCX copy number variation: from the clinics of congenital adrenal hyperplasia to evolutionary genetics.European journal of human genetics : EJHG · 2017Article
- Prenatal diagnosis of steroid 21-hydroxylase-deficient congenital adrenal hyperplasia: Experience from a tertiary care centre in India.The Indian journal of medical research · 2017Article
- [Genotypes and phenotypes in Uygur children with 21-hydroxylase deficiency in Xinjiang, China].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2016Article
- Mutational characterization of congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Malaysia.Journal of endocrinological investigation · 2013Article
- Clinical profile and inheritance pattern of CYP21A2 gene mutations in patients with classical congenital adrenal hyperplasia from 10 families.Indian journal of endocrinology and metabolismArticle
- The Spectrum ofIndian journal of endocrinology and metabolismArticle
- Congenital Adrenal Hyperplasia - A Comprehensive Review of Genetic Studies on 21-Hydroxylase Deficiency from India.Indian journal of endocrinology and metabolismReview
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6 authors at 1 institution in 1 country.
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Abstract
contextCongenital adrenal hyperplasia (CAH) is one of the inborn errors of metabolic disorder inherited in an autosomal recessive manner caused by the defects in the steroid 21 hydroxylase CYP21A2 gene. We analyzed the genotype of 62 patients with classic CAH.
aimsTo find out the underlying mutations of CYP21A2 gene. SETTINGS AND
designCohort of CAH patients. MATERIALS AND
methodsSixty-two patients with CAH were recruited from the endocrine clinic at AIIMS. Electrochemiluminiscence method was used for estimating the levels of cortisol. Radioimmunoassay kit-based method was used for estimating the 17 OHP levels. Polymerase chain reaction amplification was done using specific primers to amply the CYP21A2 gene. STATISTICAL ANALYSIS USED: Statistical analysis was done by using Epi Info Version 3.5.1.2008.
resultsOut of 62 patients, 50 were simple virilizers (SV) and 12 were salt wasters (SW). Fifty-six were females and six were males. Five 46, XX children were reared as males. Age at presentation varied from 8 months to 38 years. Molecular genetic analysis revealed that the highest number of patients harboured (In 2) IVS2-13 A/C > G (48%), followed by p.P30L (46%), p.Q318X (35%), (D 8 bp) deletion 8 bp (26%), p.I172N (26%), and p. R356W (20%) mutations.
conclusionThis is among the few studies to analyze the mutational spectrum of CYP21A2 gene in a large CAH cohort from India. Molecular diagnosis of CYP21A2 gene should be considered as part of the CAH evaluation to assess the risk of the patients/parents/siblings and to offer genetic counseling.
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