ArticleAmerican journal of human genetics2002
Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders.
Article in American journal of human genetics, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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Who cites it
29 citing papers in PubMed, 85 citations in OpenAlex.
- Expanding the Spectrum ofNeurology. Genetics · 2026Article
- Hemizygous contiguous gene deletion within Xq28 that includes BCAP31, ABCD1, SRPK3 and SSR4: case report and literature review.Global medical genetics · 2025Article
- An X-Linked Ataxia Syndrome in a Family with Hearing Loss Associated with a Novel Variant in the BCAP31 Gene.Movement disorders : official journal of the Movement Disorder Society · 2025Article
- Disorders of fatty acid homeostasis.Journal of inherited metabolic disease · 2025Review
- Secondary failure of lentiviral vector gene therapy in a cerebral adrenoleukodystrophy patient with an ABCD1 whole-gene deletion.Molecular therapy : the journal of the American Society of Gene Therapy · 2024Article
- Whole exome sequencing reveals a dual diagnosis ofMolecular genetics and metabolism reports · 2024Article
- Case Report: The first Korean familial case ofFrontiers in pediatrics · 2024Article
- Interstitial lung disease and pancreatic exocrine insufficiency in CADDS: Phenotypic expansion and literature review.JIMD reports · 2023Article
- Structure and Function of theCells · 2022Article
- Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants.European journal of human genetics : EJHG · 2021Article
- Possible mitochondrial dysfunction in a patient with deafness, dystonia, and cerebral hypomyelination (DDCH) due to BCAP31 Mutation.Molecular genetics & genomic medicine · 2020Article
- B-Cell Receptor-Associated Protein 31 Negatively Regulates the Expression of Monoamine Oxidase AFrontiers in molecular biosciences · 2020Article
- A proposed nosology of inborn errors of metabolism.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- X-Linked Sensorineural Hearing Loss: A Literature Review.Current genomics · 2018Review
- An overview of inborn errors of metabolism manifesting with primary adrenal insufficiency.Reviews in endocrine & metabolic disorders · 2018Review
- Hepatocyte-specific deletion of BAP31 promotes SREBP1C activation, promotes hepatic lipid accumulation, and worsens IR in mice.Journal of lipid research · 2018Article
- A novel method for determining peroxisomal fatty acid β-oxidation.Journal of inherited metabolic disease · 2016Article
- The important role of biochemical and functional studies in the diagnostics of peroxisomal disorders.Journal of inherited metabolic disease · 2016Review
- Exome sequencing identifies mutations in ABCD1 and DACH2 in two brothers with a distinct phenotype.BMC medical genetics · 2014Article
- Mutations in BCAP31 cause a severe X-linked phenotype with deafness, dystonia, and central hypomyelination and disorganize the Golgi apparatus.American journal of human genetics · 2013Article
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Authors and funding
16 authors at 5 institutions in 2 countries.
Funding
Abstract
X-linked adrenoleukodystrophy (X-ALD) results from mutations in ABCD1. ABCD1 resides on Xq28 and encodes an integral peroxisomal membrane protein (ALD protein [ALDP]) that is of unknown function and that belongs to the ATP-binding cassette-transporter superfamily. Individuals with ABCD1 mutations accumulate very-long-chain fatty acids (VLCFA) (carbon length >22). Childhood cerebral X-ALD is the most devastating form of the disease. These children have the earliest onset (age 7.2 +/- 1.7 years) among the clinical phenotypes for ABCD1 mutations, but onset does not occur at <3 years of age. Individuals with either peroxisomal biogenesis disorders (PBD) or single-enzyme deficiencies (SED) in the peroxisomal beta-oxidation pathway--disorders such as acyl CoA oxidase deficiency and bifunctional protein deficiency--also accumulate VLCFA, but they present during the neonatal period. Until now, it has been possible to distinguish unequivocally between individuals with these autosomal recessively inherited syndromes and individuals with ABCD1 mutations, on the basis of the clinical presentation and measurement of other biochemical markers. We have identified three newborn boys who had clinical symptoms and initial biochemical results consistent with PBD or SED. In further study, however, we showed that they lacked ALDP, and we identified deletions that extended into the promoter region of ABCD1 and the neighboring gene, DXS1357E. Mutations in DXS1357E and the ABCD1 promoter region have not been described previously. We propose that the term "contiguous ABCD1 DXS1357E deletion syndrome" (CADDS) be used to identify this new contiguous-gene syndrome. The three patients with CADDS who are described here have important implications for genetic counseling, because individuals with CADDS may previously have been misdiagnosed as having an autosomal recessive PBD or SED
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