Identification of a two base pair deletion in five unrelated families with adrenoleukodystrophy: A possible hot spot for mutations
Abstract
The gene for X-linked adrenoleukodystrophy (ALD) was recently identified. Intragenic deletions of several kilobases were found in about 7% of patients. Point mutations, expected to be very heterogeneous, were identified so far in only two patients. We report the identification of a two base pair deletion at position 1801-1802 of the ALD cDNA, located within the fifth exon of the ALD gene, which precedes the two consensus motives for ATP-binding. This microdeletion was found in five out of 40 unrelated ALD kindreds, indicating that this position is a hot spot for mutations. The mutation was observed both in patients with childhood cerebral ALD (CCALD) and in patients with adrenomyeloneuropathy (AMN).
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In the first iteration, a pathogenic variant hotspot in exon 5 accounted for 10.3% of all mutations, c.1415_16delAG (p.Gln472Argfs*83), resulting in a premature stop codon at position 554.
“A pathogenic variant hotspot was identified in exon 5 accounting for 10.3% of all mutations in the database, c.1415_16delAG (p.Gln472Argfs*83), resulting in a premature stop codon at position 554 [18].”
From Structure and Function of the ABCD1 Variant Database: 20 Years, 940 Pathogenic Variants, and 3400 Cases of Adrenoleukodystrophy (2022) · cites this paper as [18]
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 [104]
Haplotype analysis has excluded a founder effect for the 1415delAG mutation.
“Haplotype analysis has excluded a founder effect for this mutation [Kemp et al., 1994].”
From ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: Role in diagnosis and clinical correlations (2001) · cites this paper as Kemp et al., 1994
A mutation hot spot has been identified in exon 5 of ABCD1.
“A mutation hot spot has been identified in exon 5 [Kemp et al., 1994;Kok et al., 1995].”
From ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: Role in diagnosis and clinical correlations (2001) · cites this paper as Kemp et al., 1994
The 1415delAG mutation has been identified in patients with all possible X-ALD phenotypes.
“The mutation 1415delAG has been identified in patients with all possible X-ALD phenotypes [Kemp et al., 1994;Smith et al., 1999].”
From ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: Role in diagnosis and clinical correlations (2001) · cites this paper as Kemp et al., 1994
The fourth ABCD1 polymorphism is present at cDNA position 2246, eight nucleotides downstream of the stop codon (2246C/G).
“The fourth polymorphism is present at cDNA position 2246, eight nucleotides downstream of the stop codon (2246C/G) [Kemp et al., 1994].”
From ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: Role in diagnosis and clinical correlations (2001) · cites this paper as Kemp et al., 1994
In exon 6 of ABCD1, a silent G/A nucleotide polymorphism is present at cDNA position 1548 (L516L).
“In exon 6, a silent G/A nucleotide polymorphism is present at cDNA position 1548 (L516L) [Fuchs et al., 1994;Kemp et al., 1994].”
From ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: Role in diagnosis and clinical correlations (2001) · cites this paper as Kemp et al., 1994
The exon 5 hot spot mutation involves deletion of two nucleotides (AG) at cDNA position 1415-16, causing a frame shift at Glu471 and a premature stop codon at position 554.
“This mutation involves the deletion of two nucleotides (AG) at cDNA position 1415-16.This results in a frame shift at amino acid residue Glu471 (fs E471) and a premature stop codon at position 554.”
From ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: Role in diagnosis and clinical correlations (2001) · cites this paper as Kemp et al., 1994
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- Authors
- Kemp, S., Ligtenberg, M. J. L., Vangeel, B. M., Barth, P. G., Wolterman, R. A., Schoute, F., Sarde, C. O., Mandel, J. L., Vanoost, B. A., & Bolhuis, P. A.
- Affiliations
- Radboud University Nijmegen (NL)
- Venue
- Biochemical and Biophysical Research Communications
- Publisher
- Elsevier BV
- Published
- 1994-07
- Volume
- 202
- Issue
- 2
- Pages
- 647-653
- ISSN
- 0006-291X (ISSN-L)
- OpenAlex
- W2103253464
- Cited by
- 75
- References
- 0
- Citations by year
- 2026: 1 · 2025: 1 · 2024: 1 · 2022: 3 · 2021: 2 · 2020: 1 · 2019: 2 · 2016: 2 · 2014: 1 · 2012: 3
- FWCI
- 7.16
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Biochemical and Biophysical Research Communications (publishedVersion)
- PubMed (publishedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- HAL (submittedVersion)
- Pure Amsterdam UMC (submittedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Keywords
- X-linked adrenoleukodystrophy, mutational hotspots, ABCD1 gene, childhood cerebral adrenoleukodystrophy, adrenomyeloneuropathy, exon 5
- MeSH terms
- ATP Binding Cassette Transporter, Subfamily D, Member 1, Adenosine Triphosphate, Adrenoleukodystrophy, Base Composition, Base Sequence, Binding Sites, Carrier Proteins, Chromosome Deletion, Female, Humans, Male, Membrane Proteins, Molecular Sequence Data, Polymerase Chain Reaction, Consensus Sequence, Point Mutation, DNA, Complementary, ATP-Binding Cassette Transporters
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