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majority of 21-hydroxylase deficiency patients carried CYP21A2 gene variants in homozygous or compound heterozygous forms, among which the p.Ile173Asn was the most common one
Establishing a diagnosis of congenital adrenal hyperplasia on the basis of biochemical and clinical data is occasionally challenging, and the identification of CYP21A2 mutations may help confirm the diagnosis. There were diagnostic challenges despite an extensive genetic evaluation for 14 patients with a suspected clinical and biochemical diagnosis of congenital adrenal hyperplasia.
We inferred q estimates of 2.87% and 1.83%, corresponding to a prevalence of 1/1214 and 1/2986, respectively. CYP21A2 mutational spectra were quite discrepant between the 2 cohorts, with V281L representing 74% of all the mutations detected in Sardinia vs 37% in mainland Italy
P450c21 showed decreased activity in lean polycystic ovary syndrome patients in comparison to obese polycystic ovary syndrome patients.
It was found that progesterone (P4) modulated the both kinetic and equilibrium constants of CYB5A/CYP17A1 and CYB5/CYP21A2 complex formation and complexes, while not affecting the CYB5A/CYP2C19 interaction.
Large deletion of CYP21A2 gene could appear in 21-hydroxylase deficiency patients and the phenotype is similar to that of salt-wasting patients with heterozygous large deletion
To test this hypothesis, we administered intravenously an AAV serotype rh.10 gene transfer vector (AAVrh.10-21OH-HA) to 21-hydroxylase deficient mice (21OH(-/-)). The data demonstrates that a single intravenous administration efficiently transduces adrenocortical cells leading to 21OH-HA expression and restoration of normal steroidogenesis.
detailed clinical data and mutation spectrum to confirm the common mutations in Chinese populations, especially in South China,which will contribute to further genetic consultation and prenatal diagnosis; Sanger sequencing combined with MLPA method detect most mutation types in the CYP21A2 gene effectively
CYP21A2 mutations are associated with congenital adrenal hyperplasia.
The purpose of this study was to evaluate C4A and C4B in patients with congenital adrenal hyperplasia in relation to CYP21A2 genotype and psychiatric and autoimmune comorbidity. We determined the copy numbers of C4A and C4B in 145 patients with CAH .No association was found between C4 copy number and autoimmune disease
The distribution of CYP21A2 gene mutations among Ukrainian patients with congenital adrenal hyperplasia of different clinical phenotypes are presented.
233 pathogenic variants of CYP21A2 gene found in congenital adrenal hyperplasia due to 21-hydroxylase deficiency have been catalogued. (Review)
Herein, we have functionally characterized the CYP21A2 missense mutations viz., p. F306V and p. H365N. Notably, both the mutations were harbored by the patients exhibiting the non classical phenotype.
21-Hydroxylase is encoded by the CYP21A2 gene, with a homologous pseudogene. All patients with SW 21-hydroxylase deficiency (21-OHD) had elevated plasma renin activity. The most frequent SW 21-OHD mutations were c.293-13C>G and gene deletion, whereas Ile173Asn and c.293-13C>G were the most frequently detected in SV 21-OHD.
Identification of a novel compound heterozygous mutation of the CYP21A2 gene causing 21-hydroxylase deficiency in a Chinese pedigree has been reported.
Bioinformatics analysis of protein structure and known mutations in CYP21A2 gene in congenital adrenal hyperplasia demonstrate that most of the SNPs shows no biological implications. However, the study proposes a putative pathogenic effect of five novel mutations, p.L107Q, p.L122R, p.R132H, p.P335L and p.H466fs, found in 21-hydroxylase deficient patients.
Data indicate seven pathogenic mutations of the CYP21A2 gene among the 8 patients, and 21-hydroxylase deficiency (21-OHD) can cause testicular hypoplasia and spermatogenic failure.
Mutation in the CYP21A2 gene is associated with nonclassical 21-hydroxylase deficiency and final height.
CAH can be diagnosed in utero through direct molecular analysis of CYP21A2 gene, using DNA extracted from foetal tissues or cells obtained from chorionic villus sampling or amniocentesis.Our preliminary findings show that prenatal diagnosis (PND)by direct mutation analysis along with MLPA is a feasible strategy that can be offered to families at risk
Association of HLA alleles and haplotypes with CYP21A2 gene p. V282L mutation in the Croatian population has been reported.
Cyp21a1 remains expressed in the most distal structure of the developing lung even though these structures are changing, but its expression is not restricted to these areas.
Extra-adrenal induction of Cyp21a1 ameliorates steroid metabolism in 21-OHD mice. This study suggests a novel therapeutic strategy for congenital adrenal hyperplasia, which warrants further investigations.
Ureteral obstruction leads to the alteration of renal vitamin D metabolic enzyme expression and calcium transporter abundance, which may secondarily induce the abnormality of vitamin D endocrine system and bone health.
Allelic variability for 30-kb deletion in patients with 21-hydroxylase deficiency indicates that a founder effect may be improbable for most monomodular alleles carrying CYP21A1P/A2 chimeric genes in Brazil
The mutations are: I, no or minor decrease in enzyme activity: R238Q, P465L, R361K, A362V, P458L; II, loss of enzyme activity caused by inefficient electron flux: R346H, R400C; III, loss of activity due to deficient substrate binding: I462F, L464F
It plays a role on cortisol production and depends on stress. And expression of CYP21 protein will provide the basis for information and better understanding of the mechanisms related to drip loss in pork.
CYP21 gene polymorphisms were analyzed in association with litter size.
Three-dimensional structure of steroid 21-hydroxylase (cytochrome P450 21A2) with two substrates reveals locations of disease-associated variants.
The mRNA expression of P450Arom was detected using RT-PCR analysis in both hypothalamic and cortical primary cell cultures. P450Arom was identified in both neurons and astrocytes
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and hydroxylates steroids at the 21 position. Its activity is required for the synthesis of steroid hormones including cortisol and aldosterone. Mutations in this gene cause congenital adrenal hyperplasia. A related pseudogene is located near this gene\; gene conversion events involving the functional gene and the pseudogene are thought to account for many cases of steroid 21-hydroxylase deficiency. Two transcript variants encoding different isoforms have been found for this gene.
, cytochrome P450 21
, cytochrome P450 XXI
, cytochrome P450, subfamily XXIA (steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2
, cytochrome P450-C21B
, steroid 21-hydroxylase
, steroid 21-monooxygenase
, cytochrome P-450
, cytochrome P-450c21
, cytochrome P450 hydroxylase A
, cytochrome P450, 21, pseudogene
, cytochrome P450, 21, steroid 21 hydroxylase
, cytochrome P450, family 21, subfamily a, polypeptide 2, pseudogene
, cytochrome P450-C21
, steroid 21 hydroxylase
, Cytochrome P450 subfamily XXI (steroid 21-hydroxylase)
, cytochrome P450 21 steroid 21 hydroxylase
, cytochrome P450, subfamily 21A, polypeptide 1
, cytochrome P450, subfamily XXI (steroid 21-hydroxylase)
, cytochrome P450, family 21, subfamily A
, FK506 binding protein like
, cytochrome P450 21-hydroxylase
, Cytochrome P-450c21
, Cytochrome P450 21
, Cytochrome P450 XXI
, Cytochrome P450-C21