Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: A novel neonatal phenotype similar to peroxisomal biogenesis disorders

American Journal of Human Genetics

Volumn 70, Issue 6, 2002, Pages 1520-1531

  Corzo, Deyanira ^a   Gibson, William ^b   Johnson, Kisha ^c   Mitchell, Grant ^b   LePage, Guy ^b   Cox, Gerald F ^a   Casey, Robin ^d   Zeiss, Carolyn ^e   Tyson, Heidi ^c   Cutting, Garry R ^c   Raymond, Gerald V ^c   Smith, Kirby D ^c   Watkins, Paul A ^c   Moser, Ann B ^c   Moser, Hugo W ^c   Steinberg, Steven J ^c  

^a Children s Hospital   (United States)

^b UNIVERSITY OF MONTREAL   (Canada)

^c JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d UNIVERSITY OF CALGARY   (Canada)

^e YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACYL COENZYME A OXIDASE; ADRENOLEUKODYSTROPHY PROTEIN; CONTIG; PROTEIN; UNCLASSIFIED DRUG; VERY LONG CHAIN FATTY ACID;

ADRENOLEUKODYSTROPHY; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CLINICAL FEATURE; CONTIGUOUS ABCD1 DXS1357E DELETION SYNDROME; DIAGNOSTIC ERROR; DISORDERS OF PEROXISOMAL FUNCTIONS; ENZYME DEFICIENCY; FATTY ACID OXIDATION; GENE DELETION; GENETIC LINKAGE; HUMAN; HUMAN CELL; LIPID STORAGE; MALE; NEWBORN; ONSET AGE; PEROXISOME; PHENOTYPE; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN DEFICIENCY;

EID: 18344362785     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/340849     Document Type: Article

References (48)

1. The specificity of association of the IgD molecule with the accessory proteins BAP31/BAP29 lies in the IgD transmembrane sequence
2. Adrenoleukodystrophy: Incidence, new mutation rate, and results of extended family screening
3. Simple diagnosis of the Zellweger syndrome by gas-liquid chromatography of dimethylacetals
4. Accurate DNA-based diagnostic and carrier testing for X-linked adrenoleukodystrophy
5. A new phenotypic variant of X-linked adrenoleukodystrophy (ALD) presenting in the newborn period
6. Genetic analysis of the human cell surface: Antigenic marker for the human X chromosome in human-mouse hybrids
7. Interchromosomal duplications of the adrenoleukodystrophy locus: A phenomenon of pericentromeric plasticity
8. Duplication of a gene-rich cluster between 16p11.1 and Xq28: A novel pericentromeric-directed mechanism for paralogous genome evolution
9. Mutational and protein analysis of patients and heterozygous women with X-linked adrenoleukodystrophy
10. The peroxisome biogenesis disorders
11. Disturbed adrenocortical function in cerebro-hepato-renal syndrome of Zellweger
12. Identification of a testis-expressed creatine transporter gene at 16p11.2 and confirmation of the X-linked locus to Xq28
13. Quantification of pipecolic acid in plasma and urine by isotope-dilution gas chromatography/mass spectrometry
14. ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: Role in diagnosis and clinical correlations
15. Partial deletions of putative adrenoleukodystrophy (ALD) gene in Japanese ALD patients
16. Peroxisomal lignoceroyl-CoA ligase deficiency in childhood adrenoleukodystrophy and adrenomyeloneuropathy
17. Homo- and heterodimerization of peroxisomal ATP-binding cassette half-transporters
18. Predictions of a 2-locus model for disease heterogeneity: Application to adrenoleukodystrophy
19. Plasma very long chain fatty acids in 3, 000 peroxisome disease patients and 29, 000 controls
20. The prenatal diagnosis of X-linked adrenoleukodystrophy
21. Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups
22. Genotype-phenotype correlations in disorders of peroxisome biogenesis
23. Measurement of saturated very long chain fatty acids in plasma
24. The prenatal diagnosis of adrenoleukodystrophy: Demonstration of increased, hexacosanoic acid levels in cultured amniocytes and fetal adrenal gland
25. Genetic peroxisomal disorders: Why, when and how to test
26. X-linked adrenoleukodystrophy
27. Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters
28. A new human gene (DXS1357E) with ubiquitous expression, located in Xq28 adjacent to the adrenoleukodystrophy gene
29. Urinary bile acids and peroxisomal bifunctional enzyme deficiency
30. ABCD1 translator-initiator mutation demonstrates genotype-phenotype correlation for AMN
31. Brain, liver, and adipose tissue erucic and very long chain fatty acid levels in adrenoleukodystrophy patients treated with glyceryl trierucate and trioleate oils (Lorenzo's oil)
32. Characterization and functional analysis of the nucleotide binding fold in human peroxisomal ATP binding cassette transporters
33. The cerebrohepatorenal (Zellweger) syndrome: An improved method for the biochemical diagnosis and its potential value for prenatal detection
34. X-linked creatine-transporter gene (SLC6A8) defect: A new creatine-deficiency syndrome
35. Genomic organization of the adrenoleukodystrophy gene
36. X-linked adrenoleukodystrophy: Genes, mutations, and phenotypes
37. A genetic basis for the multiple phenotypes of X-linked adrenoleukodystrophy
38. Large 5′ deletions in the X-linked adrenoleukodystrophy gene, ABCD1, in two patients with a novel neonatal phenotype
39. Role of very-long-chain acyl-coenzyme A synthetase in X-linked adrenoleukodystrophy
40. Human very-long-chain acyl-CoA synthetase: Cloning, topography, and relevance to branched-chain fatty acid metabolism
41. Gas-chromatographic method of analysis for urinary organic acids. II. Description of the procedure, and its application to diagnosis of patients with organic acidurias
42. Single peroxisomal enzyme deficiencies
43. Activity of peroxisomal enzymes and intracellular distribution of catalase in Zellweger syndrome
44. Direct demonstration that the deficient oxidation of very long chain fatty acids in X-linked adrenoleukodystrophy is due to an impaired ability of peroxisomes to activate very long chain fatty acids
45. Altered expression of ALDP in X-linked adrenoleukodystrophy
46. Distinction between peroxisomal bifunctional enzyme and acyl-CoA oxidase deficiencies
47. Urinary organic acids in peroxisomal disorders: A simple screening method
48. Diagnosis of inborn errors of phytanic acid oxidation using tritiated phytanic acid