Distal Xq28 microdeletions: Clarification of the spectrum of contiguous gene deletions involving ABCD1, BCAP31, and SLC6A8 with a new case and review of the literature
Abstract
The c ontiguous ABCD1/DXS1375E (BCAP31) d eletion s yndrome (CADDS) is a rare X‐linked contiguous gene deletion syndrome with a severe clinical phenotype that includes marked delays, significant growth failure, liver dysfunction, and early death. The X‐linked creatine transporter deficiency is a considerably more common and a cause of X‐linked intellectual disability; however, multi‐exon deletions of the creatine transporter are rare. We report the fifth case of CADDS, who also has a deletion of the X‐linked creatine transporter. We also review reported cases of deletions in this region in order to clarify the clinical spectrum of contiguous microdeletions in this region. © 2014 Wiley Periodicals, Inc.
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Only nine individuals with CADDS have been reported in the medical literature to date.
“Only nine individuals with this diagnosis have been reported in the medical literature to date.”
From Interstitial lung disease and pancreatic exocrine insufficiency in <scp>CADDS</scp>: Phenotypic expansion and literature review (2023) · cites this paper as [7]
Since the first description, a further six patients with a similar phenotype and variable deletions involving ABCD1 and BCAP31 have been reported, including one symptomatic girl.
“Since then, a further six patients with a similar phenotype and variable deletions involving these contiguous genes have been reported, including one symptomatic girl. 6 , 7 , 8 , 9”
From Interstitial lung disease and pancreatic exocrine insufficiency in <scp>CADDS</scp>: Phenotypic expansion and literature review (2023) · cites this paper as [7]
In CADDS, severe developmental delay, dystonia, deafness, and white matter abnormalities are commonly reported.
“As in DDCH, severe developmental delay, dystonia, deafness, and white matter abnormalities are commonly reported, while the presence of raised VLCFA is like that seen in isolated ABCD1 defects.”
From Interstitial lung disease and pancreatic exocrine insufficiency in <scp>CADDS</scp>: Phenotypic expansion and literature review (2023) · cites this paper as [7]
Unlike DDCH or X-ALD, CADDS affected males have persistent cholestatic liver disease.
“However, unlike either DDCH or X‐ALD, CADDS affected males have persistent cholestatic liver disease and commonly die in infancy. 5 , 6 , 7 , 8 , 9”
From Interstitial lung disease and pancreatic exocrine insufficiency in <scp>CADDS</scp>: Phenotypic expansion and literature review (2023) · cites this paper as [7]
CADDS affected males commonly die in infancy.
“However, unlike either DDCH or X‐ALD, CADDS affected males have persistent cholestatic liver disease and commonly die in infancy. 5 , 6 , 7 , 8 , 9”
From Interstitial lung disease and pancreatic exocrine insufficiency in <scp>CADDS</scp>: Phenotypic expansion and literature review (2023) · cites this paper as [7]
Raised VLCFA in CADDS is like that seen in isolated ABCD1 defects.
“As in DDCH, severe developmental delay, dystonia, deafness, and white matter abnormalities are commonly reported, while the presence of raised VLCFA is like that seen in isolated ABCD1 defects.”
From Interstitial lung disease and pancreatic exocrine insufficiency in <scp>CADDS</scp>: Phenotypic expansion and literature review (2023) · cites this paper as [7]
Similar synergistic effects are implicated in the lethality of CADDS.
“Similar synergistic effects are implicated in the lethality of CADDS. 7”
From Interstitial lung disease and pancreatic exocrine insufficiency in <scp>CADDS</scp>: Phenotypic expansion and literature review (2023) · cites this paper as [7]
Most CADDS individuals presented in early infancy with hepatic cholestasis, severe growth failure, profound hypotonia, developmental delay and elevated VLCFAs.
“most individuals presented in early infancy with hepatic cholestasis, severe growth failure, profound hypotonia, developmental delay and elevated VLCFAs (Table 2).”
From Interstitial lung disease and pancreatic exocrine insufficiency in <scp>CADDS</scp>: Phenotypic expansion and literature review (2023) · cites this paper as [7]
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Heath, O., Pandithan, D., Pitt, J., Savva, E., Raiti, L., Bracken, J., Vandeleur, M., Delatycki, M. B., Yaplito‐Lee, J., Hardikar, W., et al. (2023) · JIMD Reports · doi:10.1002/jmd2.12390 · Cited by 2 · see citing works
- Authors
- Calhoun, A. R. U. L., & Raymond, G. V.
- Affiliations
- University of Minnesota (US)
- Corresponding author
- Calhoun, Amy R.U.L.
- Venue
- American Journal of Medical Genetics Part A
- Publisher
- Wiley
- Published
- 2014-07-09
- Volume
- 164
- Issue
- 10
- Pages
- 2613-2617
- ISSN
- 1552-4825 (ISSN-L)
- 1552-4833
- OpenAlex
- W1998104713
- Cited by
- 25
- References
- 0
- Citations by year
- 2026: 1 · 2025: 3 · 2024: 3 · 2023: 2 · 2022: 1 · 2021: 2 · 2020: 3 · 2019: 1 · 2017: 5 · 2016: 2 · 2015: 2
- FWCI
- 1.97
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- American Journal of Medical Genetics Part A (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Keywords
- contiguous gene syndrome, ABCD1, BCAP31, SLC6A8, creatine transporter deficiency, X-linked intellectual disability, growth failure, clinical phenotype spectrum
- MeSH terms
- Abnormalities, Multiple, ATP Binding Cassette Transporter, Subfamily D, Member 1, Creatine, Humans, Infant, Male, Membrane Proteins, Nerve Tissue Proteins, Gene Deletion, Sequence Deletion, ATP-Binding Cassette Transporters, Brain Diseases, Metabolic, Inborn, Chromosome Disorders, Mental Retardation, X-Linked, X-Linked Intellectual Disability, Plasma Membrane Neurotransmitter Transport Proteins
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