CYP21 gene mutation analysis in 198 patients with 21-hydroxylase deficiency in The Netherlands: six novel mutations and a specific cluster of four mutations.

No abstract is available for this paper.

• Publication year

  2003

• Venue

  Journal of Clinical Endocrinology and Metabolism

• Publication date

  2003-08-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1210/JC.2002-021681PMID 12915679
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

  2005influential reference
• Variable ACTH-stimulated 17-hydroxyprogesterone values in 21-hydroxylase deficiency carriers are not related to the different CYP21 gene mutations.

  2002cited by this paper
• Three novel mutations in CYP21 gene in Brazilian patients with the classical form of 21-hydroxylase deficiency due to a founder effect.

  2002cited by this paper
• Newborn screening for congenital adrenal hyperplasia in the Netherlands.

  2001cited by this paper
• Mutational spectrum of the steroid 21-hydroxylase gene in Austria: identification of a novel missense mutation.

  2001cited by this paper
• Phenotype-genotype correlation in 56 women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

  2001cited by this paper
• Predicting phenotype in steroid 21-hydroxylase deficiency? Comprehensive genotyping in 155 unrelated, well defined patients from southern Germany.

  2000cited by this paper
• Influence of different genotypes on 17‐hydroxyprogesterone levels in patients with nonclassical congenital adrenal hyperplasia due to 21‐hydroxylase deficiency

  2000cited by this paper
• A 3D model of human P450c21: study of the putative effects of steroid 21-hydroxylase gene mutations

  2000cited by this paper
• Congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

  2000cited by this paper
• CYP21 and CYP21P variability in steroid 21-hydroxylase deficiency patients and in the general population in the Netherlands

  2000cited by this paper
• Phenotypes of patients with "simple" Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics.

  2000cited by this paper
• How a patient homozygous for a 30-kb deletion of the C4-CYP 21 genomic region can have a nonclassic form of 21-hydroxylase deficiency.

  2000cited by this paper
• Genotype-phenotype associations in non-classical steroid 21-hydroxylase deficiency.

  2000cited by this paper
• Mutation Analysis in Patients with Congenital Adrenal Hyperplasia in the Spanish Population: Identification of Putative Novel Steroid 21-Hydroxylase Deficiency Alleles Associated with the Classic Form of the Disease

  1999cited by this paper
• Steroid 21‐hydroxylase deficiency: Mutational spectrum in Denmark, three novel mutations, and in vitro expression analysis

  1999cited by this paper
• Mutation screening in British 21-hydroxylase deficiency families and development of novel microsatellite based approaches to prenatal diagnosis

  1999cited by this paper
• Molecular analysis of Japanese patients with steroid 21-hydroxylase deficiency

  1999cited by this paper
• Functional analysis of four CYP21 mutations from spanish patients with congenital adrenal hyperplasia.

  1999cited by this paper
• Screening for mutations of 21-hydroxylase gene in Hungarian patients with congenital adrenal hyperplasia.

  1999cited by this paper
• Genotyping of CYP21, linked chromosome 6p markers, and a sex-specific gene in neonatal screening for congenital adrenal hyperplasia.

  1999cited by this paper
• Mutation distribution and CYP21/C4 locus variability in Brazilian families with the classical form of the 21‐hydroxylase deficiency

  1999cited by this paper
• Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group.

  1998cited by this paper
• An Update on the Molecular Genetics of Congenital Adrenal Hyperplasia: Diagnostic and Therapeutic Aspects

  1998cited by this paper
• Proof of “disease causing” mutation

  1998cited by this paper
• Recommendations for a nomenclature system for human gene mutations

  1998cited by this paper
• Molecular genotyping in Brazilian patients with the classical and nonclassical forms of 21-hydroxylase deficiency.

  1998cited by this paper
• Population-wide evaluation of disease manifestation in relation to molecular genotype in steroid 21-hydroxylase (CYP21) deficiency: good correlation in a well defined population.

  1997influential reference
• Mutation-haplotype analysis of steroid 21-hydroxylase (CYP21) deficiency in Finland. Implications for the population history of defective alleles

  1997cited by this paper
• Direct molecular diagnosis of CYP21 mutations in congenital adrenal hyperplasia.

  1996cited by this paper
• Phenotypic heterogeneity associated with the splicing mutation in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

  1996cited by this paper
• Point mutations in Italian patients with classic, non-classic, and cryptic forms of steroid 21-hydroxylase deficiency

  1996cited by this paper
• Steroid 21-hydroxylase deficiency: genotype may not predict phenotype.

  1995cited by this paper
• Divergence between genotype and phenotype in relatives of patients with the intron 2 mutation of steroid-21-hydroxylase.

  1995cited by this paper
• Screening of CYP21 gene mutations in 129 French patients affected by steroid 21‐hydroxylase deficiency

  1995cited by this paper
• Analysis of steroid 21-hydroxylase gene mutations in the Spanish population

  1995cited by this paper
• Mutational Spectrum of the Steroid 21-Hydroxylase Gene In Sweden: Implications for Genetic Diagnosis and Association With Disease Manifestation

  1994cited by this paper
• Mutations in Steroid 21‐Hydroxylase (CYP21)

  1994cited by this paper
• Molecular characterization of 21-hydroxylase deficiency in 70 Italian families.

  1993cited by this paper
• MUTATIONAL SPECTRUM OF THE STEROID 21-HYDROXYLASE GENE

  1993cited by this paper
• Steroid 21-hydroxylase (P450c21): a new allele and spread of mutations through the pseudogene

  1993cited by this paper
• Steroid 21-hydroxylase deficiency: three additional mutated alleles and establishment of phenotype-genotype relationships of common mutations.

  1992cited by this paper
• Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

  1992cited by this paper
• A simple salting out procedure for extracting DNA from human nucleated cells.

  1988influential reference
• Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: a pseudogene and a genuine gene.

  1986cited by this paper

• Chimeric CYP21A1P/CYP21A2 Genes in 21-Hydroxylase Deficiency Detected by Long-Read Sequencing and Phenotypes Correlation.

  2025cites this paper
• Genotype–Phenotype Correlation in Children With Congenital Adrenal Hyperplasia due to 21‐Hydroxylase Deficiency Using Next Generation Sequencing

  2025cites this paper
• Multifactorial analysis of male infertility: sperm DNA damage, semen parameters, and genetic testing in Iranian infertile men.

  2025cites this paper
• Comparison of long-read sequencing and MLPA combined with long-PCR sequencing of CYP21A2 mutations in patients with 21-OHD

  2024cites this paper
• Genomic complexity and clinical significance of the RCCX locus

  2024cites this paper
• Congenital Adrenal Hyperplasia.

  2024cites this paper
• Mutation distributions among patients with congenital adrenal hyperplasia from five regions of Brazil: a systematic review

  2023cites this paper
• Genetic Characterization of a Cohort of Italian Patients with Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

  2023influential citation
• 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)

  2023cites this paper
• Genetic and clinical characteristics including occurrence of testicular adrenal rest tumors in Slovak and Slovenian patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

  2023cites this paper
• Characteristics of Congenital Adrenal Hyperplasia Diagnosed in Adulthood: A Literature Review and Case Series

  2023cites this paper
• Genotyping in patients with congenital adrenal hyperplasia by sequencing of newborn bloodspot samples

  2023cites this paper
• 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

  2022cites this paper
• Genetic analysis and novel variation identification in Chinese patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

  2022cites this paper
• Genotype‐phenotype association in congenital adrenal hyperplasia due to 21‐hydroxylase deficiency in children

  2022cites this paper
• Characteristics of In2G Variant in Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

  2022cites this paper
• Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency: Genetic Characterization and the Genotype–Phenotype Correlation

  2021cites this paper
• Genotypic spectrum of 21-hydroxylase deficiency in an endogamous population

  2021cites this paper
• Congenital adrenal hyperplasia - current insights in pathophysiology, diagnostics and management.

  2021cites this paper
• Challenges of CYP21A2 genotyping in children with 21-hydroxylase deficiency: determination of genotype–phenotype correlation using next generation sequencing in Southeastern Anatolia

  2021cites this paper
• CYP21A2 mutations in pediatric patients with congenital adrenal hyperplasia in Costa Rica

  2021cites this paper
• The spectrum of CYP21A2 gene mutations in patients with classic salt wasting form of 2l‐hydroxylase deficiency in a Chinese cohort

  2020cites this paper
• EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency

  2020cites this paper
• Clinical outcomes and characteristics of P30L mutations in congenital adrenal hyperplasia due to 21-hydroxylase deficiency

  2020cites this paper
• Genetic profiling of CAH Egyptian children: rapid guide to clinical interpretation of common mutations

  2020cites this paper
• A Case of Salt-Wasting Congenital Adrenal Hyperplasia with Triple Homozygous Mutation: Review of Literature

  2020cites this paper
• Clinical application of a novel next generation sequencing assay for CYP21A2 gene in 310 cases of 21- hydroxylase congenital adrenal hyperplasia from India

  2020cites this paper
• Assessment of the most common CYP21A2 point mutations in a cohort of congenital adrenal hyperplasia patients from Egypt

  2020cites this paper
• Cancer Biology and Advances in Treatment

  2020cites this paper
• The spectrum of CYP21A2 gene mutations in patients with 2l-hydroxylase deficiency -induced congenital adrenal hyperplasia in a Chinese cohort CURRENT POSTED

  2020cites this paper
• 21-Hydroxylase deficiency: Mutational spectrum and Genotype-Phenotype relations analyses by next-generation sequencing and multiplex ligation-dependent probe amplification.

  2020cites this paper
• Genotype and clinical outcomes in children with congenital adrenal hyperplasia

  2020cites this paper
• Monozygotic Twins Discordant for Congenital Adrenal Hyperplasia due to Mosaicism.

  2019cites this paper
• Clinical and hormonal characteristics in heterozygote carriers of congenital adrenal hyperplasia.

  2019cites this paper
• Genotype–phenotype correlation study and mutational and hormonal analysis in a Chinese cohort with 21‐hydroxylase deficiency

  2019influential citation
• Analysis of Phenotypes and Genotypes in 84 Patients with 21-Hydroxylase Deficiency in Southern China.

  2019cites this paper
• 46,XX DSD Due to Androgen Excess in Monogenic Disorders of Steroidogenesis: Genetic, Biochemical, and Clinical Features

  2019cites this paper
• Investigation of protein stability as underlying molecular pathology in 21-hydroxylase deficiency

  2019influential citation
• The Complexities in Genotyping of Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency

  2019influential citation
• Measuring the structural impact of mutations on cytochrome P450 21A2, the major steroid 21-hydroxylase related to congenital adrenal hyperplasia

  2019cites this paper
• Genotype/phenotype correlations in 538 congenital adrenal hyperplasia patients from Germany and Austria: discordances in milder genotypes and in screened versus prescreening patients

  2019cites this paper
• Novel variants of CYP21A2 in Vietnamese patients with congenital adrenal hyperplasia

  2019influential citation
• A Novel Nonsense Mutation c.374C>G in CYP21A2 Gene of a Vietnamese Patient with Congenital Adrenal Hyperplasia.

  2019cites this paper
• Bilateral adrenal myelolipomas presenting as acute adrenal insufficiency in an adult with congenital adrenal hyperplasia

  2019cites this paper
• CYP21A2 Gene Pathogenic Variants: A Multicenter Study on Genotype–Phenotype Correlation from a Portuguese Pediatric Cohort

  2019cites this paper
• Revisiting the association of HLA alleles and haplotypes with CYP21A2 mutations in a large cohort of patients with congenital adrenal hyperplasia.

  2019cites this paper
• Complex Alleles of CYP21A2 Are the Most Frequent Causes of Congenital Adrenal Hyperplasia in Iranian Population

  2019cites this paper
• CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants

  2018influential citation
• ANALYSIS CYP 21 A 2 GENE MUTATIONS TECHNIQUE IN PATIENTS WITH CONGENITAL ADRENAL HYPERPLASIA

  2018cites this paper
• Genotype Is Associated to the Degree of Virilization in Patients With Classic Congenital Adrenal Hyperplasia

  2018cites this paper
• Clinical presentation and mutational spectrum in a series of 166 patients with classical 21-hydroxylase deficiency from South China.

  2018cites this paper
• An overview of inborn errors of metabolism manifesting with primary adrenal insufficiency

  2018cites this paper
• Genetics of Congenital Adrenal Hyperplasia.

  2017cites this paper
• Development of CYP21A2 Genotyping Assay for the Diagnosis of Congenital Adrenal Hyperplasia

  2017cites this paper
• Molecular genetic analysis in 93 patients and 193 family members with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Croatia.

  2017influential citation
• Congenital Adrenal Hyperplasia.

  2017cites this paper
• The spectrum of CYP21A2 mutations in Congenital Adrenal Hyperplasia in an Indian cohort.

  2017cites this paper
• Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency revisited: an update with a special focus on adolescent and adult women.

  2017cites this paper
• 21-hydroxylase deficiency-induced congenital adrenal hyperplasia in 230 Chinese patients: Genotype-phenotype correlation and identification of nine novel mutations.

  2016cites this paper
• A Single Nucleotide Variant in the Promoter Region of 17β-HSD Type 5 Gene Influences External Genitalia Virilization in Females with 21-Hydroxylase Deficiency

  2016cites this paper
• Mutation detection of CYP21A2 gene in nonclassical congenital adrenal hyperplasia patients with premature pubarche

  2016cites this paper
• Structure-based activity prediction of CYP21A2 stability variants: A survey of available gene variations

  2016cites this paper
• Analysis of CYP21A2 gene mutations in patients from Ukraine with congenital adrenal hyperplasia

  2016cites this paper
• Prenatal Diagnosis of Congenital Adrenal Hyperplasia.

  2016cites this paper
• Mutasi Gen CYP21 dan Manifestasi Klinis pada Hiperplasia Adrenal Kongenital

  2016cites this paper
• 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia

  2016cites this paper
• Biochemical and genetic diagnosis of 21-hydroxylase deficiency

  2015cites this paper
• Clinical profile and inheritance pattern of CYP21A2 gene mutations in patients with classical congenital adrenal hyperplasia from 10 families

  2015cites this paper
• Corticosteroids in Pediatric Endocrinology

  2015cites this paper
• CYP21A2 Mutation Analysis in Korean Patients With Congenital Adrenal Hyperplasia Using Complementary Methods: Sequencing After Long-Range PCR and Restriction Fragment Length Polymorphism Analysis With Multiple Ligation-Dependent Probe Amplification Assay

  2015cites this paper
• Substitution therapy in adult patients with congenital adrenal hyperplasia.

  2015cites this paper
• The spectrum of clinical, hormonal and molecular findings in 280 individuals with nonclassical congenital adrenal hyperplasia caused by mutations of the CYP21A2 gene

  2015cites this paper
• The History of Prenatal Diagnosis of Congenital Adrenal Hyperplasia

  2014cites this paper
• ANALYSIS CYP21A2 GENE MUTATIONS TECHNIQUE IN PATIENTS WITH CONGENITAL ADRENAL HYPERPLASIA

  2014cites this paper
• Increased Prevalence of Testicular Adrenal Rest Tumours during Adolescence in Congenital Adrenal Hyperplasia

  2014cites this paper
• Severe fatigue in patients with adrenal insufficiency: physical, psychosocial and endocrine determinants

  2014cites this paper
• Geographical Endocrinology of Genetic Steroid Disorders

  2014cites this paper
• Molecular Genetics of 21‐Hydroxylase Deficiency

  2014cites this paper
• Congenital Adrenal Hyperplasia Owing to 21-Hydroxylase Deficiency

  2014cites this paper
• Functional Studies of p.R132C, p.R149C, p.M283V, p.E431K, and a Novel c.652-2A>G Mutations of the CYP21A2 Gene

  2014influential citation
• 21-Hydroxylase gene mutant allele CYP21A2*15 strongly linked to the resistant HLA haplotype B*14:02-DRB1*01:02 in chronic Chagas disease.

  2013cites this paper
• Congenital adrenal hyperplasia, cyp21a2 deficiency : clinical and physiological aspects of pregnancy, screening and growth

  2013cites this paper
• Mutational characterization of congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Malaysia

  2013cites this paper
• Genotype–phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency

  2013cites this paper
• Management of adolescents with congenital adrenal hyperplasia.

  2013cites this paper
• Investigation of CYP21A2 mutations in Turkish patients with 21-hydroxylase deficiency and a novel founder mutation.

  2013influential citation
• Congenital Adrenal Hyperplasia in Adults : Epidemiological , Genetic , Clinical and Endocrine Features of CYP 21 A 2 Deficiency in Norway

  2013cites this paper
• Variants of the CYP21A2 and CYP21A1P genes in congenital adrenal hyperplasia.

  2013cites this paper
• A 68-year-old phenotypically male patient with 21-hydroxylase deficiency and concomitant adrenocortical neoplasm producing testosterone and cortisol.

  2013cites this paper
• Congenital Adrenal Hyperplasia in Adults: Epidemiological, Genetic, Clinical and Endocrine Features of CYP21A2 Deficiency in Norway

  2013cites this paper
• An unusual case of secondary amenorrhoea

  2013cites this paper
• The effect of fetal androgen metabolism‐related gene variants on external genitalia virilization in congenital adrenal hyperplasia

  2013cites this paper
• A Case of Congenital Adrenal Hyperplasia Mimicking Cushing's Syndrome

  2012cites this paper
• Genetic, anthropometric and metabolic features of adult Norwegian patients with 21-hydroxylase deficiency.

  2012cites this paper
• Association between genotype, clinical presentation, and severity of congenital adrenal hyperplasia: a review.

  2012cites this paper
• Molecular Genetics of Congenital Adrenal Hyperplasia

  2012cites this paper
• Adrenal rest tissue in gonads of patients with classical congenital adrenal hyperplasia: multicenter study of 45 French male patients.

  2012cites this paper
• Steroid 21-hydroxylase gene mutational spectrum in 50 Tunisian patients: characterization of three novel polymorphisms.

  2012influential citation
• Molecular testing in congenital adrenal hyperplasia due to 21α‐hydroxylase deficiency in the era of newborn screening

  2012cites this paper
• Junction site analysis of chimeric CYP21A1P/CYP21A2 genes in 21-hydroxylase deficiency.

  2012cites this paper