Article
Licensed
Unlicensed
Requires Authentication
A new CYP21A2 nonsense mutation causing severe 21-hydroxylase deficiency
-
Paola Concolino
Published/Copyright:
June 5, 2009
Abstract
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder caused primarily by defects in the steroid 21-hydroxylase gene (CYP21A2). The CYP21A2 gene is located in the HLA class III region on the short arm of chromosome 6p21.3, along with an inactive pseudogene, CYP21A1P, that is 98% homologous with CYP21A2 in its coding sequence. Most mutations found in the CYP21A2 gene are normally present in the pseudogene, implying that recombination events (microconversion) between these two genes may lead to the transfer of mutations from the pseudogene to the functional gene. Approximately only 5% of all CYP21A2 alleles causing disease harbour rare mutations not originating from the pseudogene. However, detection of these rare and spontaneous mutations has continued to expand worldwide. In this report, we describe the clinical and genetic findings in a Romanian newborn suffering from classic salt wasting form of CAH due to severe 21-hydroxylase deficiency.
Clin Chem Lab Med 2009;47:824–5.
Keywords: congenital adrenal hyperplasia (CAH); 21-hydroxylase deficiency; 21-hydroxylase gene (CYP21A2); mutation
Received: 2009-3-13
Accepted: 2009-4-20
Published Online: 2009-06-05
Published in Print: 2009-07-01
©2009 by Walter de Gruyter Berlin New York
You are currently not able to access this content.
You are currently not able to access this content.
Articles in the same Issue
- Editorials
- Change through continuity
- EFCC and Labs are Vital announce an Award for Outcomes Research in Laboratory Medicine
- Review
- The prevalence and risk factors for gallstone disease
- Opinion Paper
- Measurement uncertainty of test kit results – the ELISA example
- Genetics and Molecular Diagnostics
- Expression of RhoA and RhoC in colorectal carcinoma and its relations with clinicopathological parameters
- High-sensitive microarray substrates specifically designed to improve sensitivity for the identification of fetal paternally inherited sequences in maternal plasma
- A new CYP21A2 nonsense mutation causing severe 21-hydroxylase deficiency
- The haptoglobin phenotype is associated with the Epstein-Barr virus antibody titer
- General Clinical Chemistry and Laboratory Medicine
- Evaluation of analytical performance of the Pathfast® cardiac troponin I
- Diagnostic performance of the ARCHITECT C-Peptide immunoassay
- Clinical significance of anti-cyclic citrullinated peptide antibodies in Egyptian patients with chronic hepatitis C virus genotype IV infection
- Cerebrospinal fluid and serum uric acid levels in patients with multiple sclerosis
- Therapeutic drug monitoring and drugs of abuse testing on the cobas® 6000 analyzer series: analytical performance under routine-like conditions
- Is serum γ-glutamyltransferase an exposure marker of xenobiotics? Empirical evidence with polycylic aromatic hydrocarbon
- Reference Values and Biological Variations
- Gender difference and determinants of C-reactive protein level in Korean adults
- Cancer Diagnostics
- Quantitative telomerase activity in circulating human leukocytes: utility of real-time telomeric repeats amplification protocol (RQ-TRAP) in a clinical/epidemiological setting
- Intrathecal synthesis of tumor markers is a highly sensitive test in the diagnosis of leptomeningeal metastasis from solid cancers
- Letters to the Editor
- Hyperleukocytosis: pseudohyperkalaemia and other biochemical abnormalities in hyperleukocytosis
- Review of the prevalence of macroprolactinaemia in a South African hospital
- A novel aberrant form of e13a2 BCR-ABL1 transcript in chronic myelogenous leukemia undetectable with the standardized real-time quantitative polymerase chain reaction from the Europe Against Cancer Program
- Positive correlations between serum and plasma matrix metalloproteinase (MMP)-2 or MMP-9 levels in disease conditions
- Doubt on prevention of false-positive results of cardiac troponin I by recentrifugation
- Plasmalogens as a marker of elevated systemic oxidative stress in Parkinson's disease
Keywords for this article
congenital adrenal hyperplasia (CAH); 21-hydroxylase deficiency;
21-hydroxylase gene (CYP21A2);
mutation
Articles in the same Issue
- Editorials
- Change through continuity
- EFCC and Labs are Vital announce an Award for Outcomes Research in Laboratory Medicine
- Review
- The prevalence and risk factors for gallstone disease
- Opinion Paper
- Measurement uncertainty of test kit results – the ELISA example
- Genetics and Molecular Diagnostics
- Expression of RhoA and RhoC in colorectal carcinoma and its relations with clinicopathological parameters
- High-sensitive microarray substrates specifically designed to improve sensitivity for the identification of fetal paternally inherited sequences in maternal plasma
- A new CYP21A2 nonsense mutation causing severe 21-hydroxylase deficiency
- The haptoglobin phenotype is associated with the Epstein-Barr virus antibody titer
- General Clinical Chemistry and Laboratory Medicine
- Evaluation of analytical performance of the Pathfast® cardiac troponin I
- Diagnostic performance of the ARCHITECT C-Peptide immunoassay
- Clinical significance of anti-cyclic citrullinated peptide antibodies in Egyptian patients with chronic hepatitis C virus genotype IV infection
- Cerebrospinal fluid and serum uric acid levels in patients with multiple sclerosis
- Therapeutic drug monitoring and drugs of abuse testing on the cobas® 6000 analyzer series: analytical performance under routine-like conditions
- Is serum γ-glutamyltransferase an exposure marker of xenobiotics? Empirical evidence with polycylic aromatic hydrocarbon
- Reference Values and Biological Variations
- Gender difference and determinants of C-reactive protein level in Korean adults
- Cancer Diagnostics
- Quantitative telomerase activity in circulating human leukocytes: utility of real-time telomeric repeats amplification protocol (RQ-TRAP) in a clinical/epidemiological setting
- Intrathecal synthesis of tumor markers is a highly sensitive test in the diagnosis of leptomeningeal metastasis from solid cancers
- Letters to the Editor
- Hyperleukocytosis: pseudohyperkalaemia and other biochemical abnormalities in hyperleukocytosis
- Review of the prevalence of macroprolactinaemia in a South African hospital
- A novel aberrant form of e13a2 BCR-ABL1 transcript in chronic myelogenous leukemia undetectable with the standardized real-time quantitative polymerase chain reaction from the Europe Against Cancer Program
- Positive correlations between serum and plasma matrix metalloproteinase (MMP)-2 or MMP-9 levels in disease conditions
- Doubt on prevention of false-positive results of cardiac troponin I by recentrifugation
- Plasmalogens as a marker of elevated systemic oxidative stress in Parkinson's disease
