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Cited by 20Metabolism and Genetic DisordersLysosomal Storage Disorders ResearchHereditary Neurological Disorders

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Molecular characterization of 21 X-ALD Portuguese families: identification of eight novel mutations in the ABCD1 gene

Guimarães, Carla P, Lemos, Manuela, Sá-Miranda, Clara, Azevedo, Jorge E·2002·Molecular Genetics and Metabolism
DOI 10.1016/s1096-7192(02)00023-9
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Abstract

X-linked adrenoleukodystrophy (X-ALD) is the most common inherited peroxisomal disorder. The gene associated with X-ALD, ABCD1, encodes a peroxisomal ATP-binding cassette half-transporter. In this study, we describe the molecular characterization of 21 affected Portuguese families. The complete coding region of the ABCD1 gene was amplified by reverse transcription polymerase chain reaction (RT-PCR) or genomic PCR. After conformation-sensitive gel electrophoresis analysis, fragments with a conformational heteroduplex pattern were sequenced. Using this strategy, we have identified 14 missense mutations, two nonsense mutations, two splicing site defects, and three small deletions, two of them resulting in frameshifts. Eight of the genetic alterations characterized in this study are novel. The levels of the ABCD1 transcript as well as the levels of ALDP in cultured skin fibroblasts of male probands were also determined in most cases. The levels of the ABCD1 transcript in one patient (corresponding to a nonsense mutation) were below the detection limit of Northern-blotting analysis. ALDP was found at normal levels in only three patients, absent in five (corresponding to a double missense, two nonsense, and two frameshift mutations), and decreased in all the others.

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Crossref · 10.1016/s1096-7192(02)00023-9

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  • Devastating childhood cALD and late adulthood AMN may co-exist within the same family.

    “Devastating childhood cALD and late adulthood AMN may co-exist within the same family [103,104,105,106], whereas the few studied monozygotic twins showed less discordant phenotypes [107,108,109,110].”

    From Revisiting the Pathogenesis of X-Linked Adrenoleukodystrophy (2025) · cites this paper as [105]

  • Within individual kindreds, phenotypes of the entire clinical spectrum of X-ALD have been described.

    “Secondly, within individual kindreds, phenotypes of the entire clinical spectrum of X-ALD have been described.15,32,33”

    From The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosis (2015) · cites this paper as [33]

Citations

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Research works printed but not linked: 22

  1. Igarashi, 1976, Fatty acid abnormality in adrenoleukodystrophy, J. Neurochem., 26, 851, 10.1111/j.1471-4159.1976.tb04461.x-i1 · DOI · Paper page
  2. Singh, 1981, Adrenoleukodystrophy impaired oxidation of long chain fatty acids in cultured skin fibroblasts and adrenal cortex, Biochem. Biophy. Res. Commun., 102, 1223, 10.1016/S0006-291X(81)80142-8 · DOI
  3. Moser, 1999, Plasma very long chain fatty acids in 3000 peroxisome disease patients and 29,000 controls, Ann. Neurol., 45, 100, 10.1002/1531-8249(199901)45:1<100::AID-ART16>3.0.CO;2-U · DOI
  4. Mosser, 1994, The gene responsible for adrenoleukodystrophy encodes a peroxisomal membrane protein, Hum. Mol. Genet., 3, 265, 10.1093/hmg/3.2.265 · DOI · Paper page
  5. Gärtner, 1998, Clinical and genetic aspects of X-linked adrenoleukodystrophy, Neuropediatrics, 29, 3, 10.1055/s-2007-973526 · DOI
  6. Guimarães, 2001, Characterisation of two mutations in the ABCD1 gene leading to low levels of normal ALDP, Hum. Genet., 109, 616, 10.1007/s00439-001-0632-z · DOI
  7. Boehm, 1999, Accurate DNA-based diagnostic and carrier testing for X-linked adrenoleukodystrophy, Mol. Genet. Metab., 66, 128, 10.1006/mgme.1998.2779 · DOI · Paper page
  8. Ganguly, 1993, Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes, Proc. Natl. Acad. Sci. USA, 90, 10325, 10.1073/pnas.90.21.10325 · DOI
  9. Dunen den, 2001, Nomenclature for the description of human sequence variations, Hum. Genet., 109, 121, 10.1007/s004390100505 · DOI
  10. Povey, 2001, The HUGO Gene Nomenclature Committee (HGNC), Hum. Genet., 109, 678, 10.1007/s00439-001-0615-0 · DOI
  11. Lowry, 1951, Protein measurement with the Folin phenol reagent, J. Biol. Chem., 193, 265, 10.1016/S0021-9258(19)52451-6 · DOI
  12. Kok, 1995, Mutational analysis of patients with X-linked adrenoleukodystrophy, Hum. Mutat., 6, 104, 10.1002/humu.1380060203 · DOI · Paper page
  13. Yasutake, 1995, Molecular analysis of X-linked adrenoleukodystrophy patients, J. Neurol. Sci., 131, 58, 10.1016/0022-510X(95)00047-6 · DOI
  14. Feigenbaum, 1996, Mutational and protein analysis of patients and heterozygous women with X-linked adrenoleukodystrophy, Am. J. Hum. Genet., 58, 1135
  15. Lachtermacher, 2000, Determination of 30 X-linked adrenoleukodystrophy mutations, including 15 not previously described, Hum. Mutat., 15, 348, 10.1002/(SICI)1098-1004(200004)15:4<348::AID-HUMU7>3.0.CO;2-N · DOI
  16. Perusi, 1999, Two novel missense mutations causing adrenoleukodystrophy in Italian patients, Mol. Cell. Probes., 13, 179, 10.1006/mcpr.1999.0232 · DOI
  17. Fuchs, 1994, Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD), Hum. Mol. Genet., 3, 1903, 10.1093/hmg/3.10.1903 · DOI · Paper page
  18. Fanen, 1994, Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene, J. Clin. Invest., 94, 516, 10.1172/JCI117363 · DOI
  19. Imamura, 1997, Two novel missense mutations in the ATP-binding domain of the adrenoleukodystrophy gene: immunoblotting and immunocytological study of two patients, Clin. Genet., 51, 322, 10.1111/j.1399-0004.1997.tb02481.x · DOI
  20. Takano, 1999, Mutational analysis and genotype-phenotype correlation of 29 unrelated Japanese patients with X-linked adrenoleukodystrophy, Arch. Neurol., 56, 295, 10.1001/archneur.56.3.295 · DOI
  21. Ligtenberg, 1995, Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein, Am. J. Hum. Genet., 56, 44
  22. Barcelo, 1994, Identification of a new frameshift mutation (1801delAG) in the ALD gene, Hum. Mol. Genet., 3, 1889, 10.1093/hmg/3.10.1889 · DOI

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Metadata

Authors
Guimarães, C. P., Lemos, M., Sá-Miranda, C., & Azevedo, J. E.
Affiliations
Universidade do Porto (PT)
Corresponding author
Azevedo, Jorge E
ORCID
Venue
Molecular Genetics and Metabolism
Publisher
Elsevier BV
Published
2002-05
Volume
76
Issue
1
Pages
62-67
ISSN
1096-7192 (ISSN-L)
DOI
10.1016/s1096-7192(02)00023-9
OpenAlex
W2121792954
Cited by
20
References
6
Citations by year
2025: 1 · 2022: 2 · 2021: 1 · 2016: 1 · 2015: 2 · 2013: 2 · 2012: 2
FWCI
0.86
Type
journal article
Language
en
Open access
closed
Licence
Locations
  • Molecular Genetics and Metabolism (publishedVersion)
  • PubMed (publishedVersion)
Funders
  • Ministério da Educação e Ciência (PRAXIS XXI 2/2.1/SAU/1345/95)
  • Instituto Nacional de Ciência e Tecnologia para Excitotoxicidade e Neuroproteção (SFRH/BD/1445/2000)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
  • Health Sciences › Medicine › Genetics (clinical) › Lysosomal Storage Disorders Research
  • Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
Keywords
X-linked adrenoleukodystrophy, ABCD1 gene, novel mutations, peroxisomal disorders, ABC transporters, missense mutations, nonsense mutation, aberrant splicing, frameshift deletion, mRNA levels, Portuguese families
MeSH terms
ATP Binding Cassette Transporter, Subfamily D, Member 1, Adrenoleukodystrophy, Electrophoresis, Polyacrylamide Gel, Fatty Acids, Female, Fibroblasts, Humans, Male, Mutation, Portugal, Polymerase Chain Reaction, ATP-Binding Cassette Transporters

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