Article
Licensed
Unlicensed
Requires Authentication
Identification of two de novo mutations in Chinese patients with X-linked adrenoleukodystrophy
-
Zhihong Wang
Published/Copyright:
October 31, 2008
Abstract
Background: Mutations in the ABCD1 gene lead to X-linked adrenoleukodystrophy, a neurodegenerative disorder. Hundreds of hereditary mutations of the gene have been reported in patients with X-linked adrenoleukodystrophy, but there have been no reports of de novo mutations.
Methods: The coding region of ABCD1 cDNA of two patients was amplified and sequenced. To confirm the mutations in the ABCD1 gene of the patients and screen for mutations in their family members, the genomic DNA was analyzed by direct sequencing and denaturing high performance liquid chromatography.
Results: Two missense mutations (C631Y and G512S) were identified in the probands, but the mutations were not found in their parents. Tests for paternity identification excluded the possibility of misparentage.
Conclusions: The mutations identified in the two male patients were de novo mutations. Mutation analysis of parents of the proband may be helpful for pregnancy planning and evaluation of the recurrence risk to siblings of the proband.
Clin Chem Lab Med 2008;46:1702–6.
Received: 2008-3-25
Accepted: 2008-8-1
Published Online: 2008-10-31
Published in Print: 2008-12-01
©2008 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
- Editors' and Publisher's Note
- CCLM Award for the most cited paper recently published
- Reviews
- Cystatin C: current position and future prospects
- Some heterogeneity factors affecting the B-type natriuretic peptides outcome: a meta-analysis
- Genetics and Molecular Diagnostics
- Effect of cyclin D1 (CCND1) polymorphism on gastric premalignant condition
- Identification of two de novo mutations in Chinese patients with X-linked adrenoleukodystrophy
- CYP21A2 gene mutation analysis in Moroccan patients with classic form of 21-hydroxylase deficiency: high regional prevalence of p.Q318X mutation and identification of a novel p.L353R mutation
- Apolipoprotein A5 gene −1131T/C polymorphism is associated with the risk of metabolic syndrome in ethnic Chinese in Taiwan
- Association of GSTM1 and GSTT1 gene polymorphisms with coronary artery disease in relation to tobacco smoking
- Use of the biochip microarray system in detection of myocardial injury caused by radiofrequency catheter ablation
- An in-house method for the detection and quantification of HCV in serum samples using a TaqMan assay real time PCR approach
- General Clinical Chemistry and Laboratory Medicine
- Drugs and brain death diagnostics: determination of drugs capable of inducing EEG zero line
- Accurate assessment and identification of naturally occurring cellular cobalamins
- Development and validation of a high-performance liquid chromatography assay for posaconazole utilizing solid-phase extraction
- Discriminant value of % microcytic/% hypochromic ratio in the differential diagnosis of microcytic anemia
- Determination of carbohydrate-deficient transferrin (CDT) in Italy
- Validation and Outcome Studies
- Critical evaluation of connectivity-based point of care testing systems of glucose in a hospital environment
- Validation of a novel ELISA for measurement of electronegative low-density lipoprotein
- Five commercially available insulin-like growth factor I (IGF-I) assays in comparison to the former Nichols Advantage IGF-I in a growth hormone treated population
- Introduction of non-linearity by data transformation in method comparison and commutability studies
- Reliability and correlation study of a new homocysteine assay
- Letters to the Editor
- Prevention of preanalytical false-positive increases of cardiac troponin I on the Unicel® DxI 800 analyzer
- Does carbamylated hemoglobin still affect the analysis of HbA1c in uremic and hyperglycemic patients?
- Recombinant immunoblot for assessment of intrathecally synthesised paraneoplastic antineuronal antibodies in cerebrospinal fluid from patients with paraneoplastic neurological syndromes
- Detection of duplicates and redundancies. A major responsibility of peer-reviewers?
- Erratum
- Diagnostic performance of rapid tests for detection of fecal calprotectin and lactoferrin and their ability to discriminate inflammatory from irritable bowel syndrome
- Acknowledgement
- Acknowledgements
- Contents
- Contents, Volume 46, 2008
- Author Index
- Author Index
- Subject Index
- Subject Index
Keywords for this article
ABCD1 gene;
de novo mutation;
molecular diagnosis;
X-linked adrenoleukodystrophy
Articles in the same Issue
- Editors' and Publisher's Note
- CCLM Award for the most cited paper recently published
- Reviews
- Cystatin C: current position and future prospects
- Some heterogeneity factors affecting the B-type natriuretic peptides outcome: a meta-analysis
- Genetics and Molecular Diagnostics
- Effect of cyclin D1 (CCND1) polymorphism on gastric premalignant condition
- Identification of two de novo mutations in Chinese patients with X-linked adrenoleukodystrophy
- CYP21A2 gene mutation analysis in Moroccan patients with classic form of 21-hydroxylase deficiency: high regional prevalence of p.Q318X mutation and identification of a novel p.L353R mutation
- Apolipoprotein A5 gene −1131T/C polymorphism is associated with the risk of metabolic syndrome in ethnic Chinese in Taiwan
- Association of GSTM1 and GSTT1 gene polymorphisms with coronary artery disease in relation to tobacco smoking
- Use of the biochip microarray system in detection of myocardial injury caused by radiofrequency catheter ablation
- An in-house method for the detection and quantification of HCV in serum samples using a TaqMan assay real time PCR approach
- General Clinical Chemistry and Laboratory Medicine
- Drugs and brain death diagnostics: determination of drugs capable of inducing EEG zero line
- Accurate assessment and identification of naturally occurring cellular cobalamins
- Development and validation of a high-performance liquid chromatography assay for posaconazole utilizing solid-phase extraction
- Discriminant value of % microcytic/% hypochromic ratio in the differential diagnosis of microcytic anemia
- Determination of carbohydrate-deficient transferrin (CDT) in Italy
- Validation and Outcome Studies
- Critical evaluation of connectivity-based point of care testing systems of glucose in a hospital environment
- Validation of a novel ELISA for measurement of electronegative low-density lipoprotein
- Five commercially available insulin-like growth factor I (IGF-I) assays in comparison to the former Nichols Advantage IGF-I in a growth hormone treated population
- Introduction of non-linearity by data transformation in method comparison and commutability studies
- Reliability and correlation study of a new homocysteine assay
- Letters to the Editor
- Prevention of preanalytical false-positive increases of cardiac troponin I on the Unicel® DxI 800 analyzer
- Does carbamylated hemoglobin still affect the analysis of HbA1c in uremic and hyperglycemic patients?
- Recombinant immunoblot for assessment of intrathecally synthesised paraneoplastic antineuronal antibodies in cerebrospinal fluid from patients with paraneoplastic neurological syndromes
- Detection of duplicates and redundancies. A major responsibility of peer-reviewers?
- Erratum
- Diagnostic performance of rapid tests for detection of fecal calprotectin and lactoferrin and their ability to discriminate inflammatory from irritable bowel syndrome
- Acknowledgement
- Acknowledgements
- Contents
- Contents, Volume 46, 2008
- Author Index
- Author Index
- Subject Index
- Subject Index
