Genotype–phenotype correlation of contiguous gene deletions of SLC6A8, BCAP31 and ABCD1
Open accessAbstract
The BCAP31 gene is located between SLC6A8, associated with X‐linked creatine transporter deficiency, and ABCD1, associated with X‐linked adrenoleukodystrophy. Recently, loss‐of‐function mutations in BCAP31 were reported in association with severe developmental delay, deafness and dystonia. We characterized the break points in eight patients with deletions of SLC6A8, BCAP31 and/or ABCD1 and studied the genotype–phenotype correlations. The phenotype in patients with contiguous gene deletions involving BCAP31 overlaps with the phenotype of isolated BCAP31 deficiency. Only deletions involving both BCAP31 and ABCD1 were associated with hepatic cholestasis and death before 1 year, which might be explained by a synergistic effect. Remarkably, a patient with an isolated deletion at the 3′‐end of SLC6A8 had a similar severe phenotype as seen in BCAP31 deficiency but without deafness. This might be caused by the disturbance of a regulatory element between SLC6A8 and BCAP31.
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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 [8]
RNA analyses and immunocytochemical studies on cultured fibroblasts from affected CADDS patients have previously confirmed the absence of BCAP31 transcripts and ALDP, respectively, in keeping with a loss-of-function effect.
“RNA analyses and immunocytochemical studies on cultured fibroblasts from affected CADDS patients have previously confirmed the absence of BCAP31 transcripts and ALDP (the protein encoded by ABCD1), respectively, in keeping with a loss‐of‐function effect.”
From Interstitial lung disease and pancreatic exocrine insufficiency in <scp>CADDS</scp>: Phenotypic expansion and literature review (2023) · cites this paper as [8]
A symptomatic 3-year-old girl with CADDS is the longest surviving individual reported.
“a symptomatic 3‐year‐old girl with CADDS is the longest surviving individual reported.”
From Interstitial lung disease and pancreatic exocrine insufficiency in <scp>CADDS</scp>: Phenotypic expansion and literature review (2023) · cites this paper as [8]
Congenital heart disease did not feature in any of the CADDS patients with PLXNB3 involvement.
“congenital heart disease did not feature in any of the CADDS patients with PLXNB3 involvement.”
From Interstitial lung disease and pancreatic exocrine insufficiency in <scp>CADDS</scp>: Phenotypic expansion and literature review (2023) · cites this paper as [8]
The impact of SRPK3 deletion in the patient and two others is unclear due to early mortality reported in CADDS.
“The impact of its deletion in our patient and two others is unclear, however, due to the early mortality reported in CADDS.”
From Interstitial lung disease and pancreatic exocrine insufficiency in <scp>CADDS</scp>: Phenotypic expansion and literature review (2023) · cites this paper as [8]
Cites
A role for Fis1 in both mitochondrial and peroxisomal fission in mammalian cells
Koch, A., Yoon, Y., Bonekamp, N. A., McNiven, M. A., & Schrader, M. (2005) · Molecular Biology of the Cell · doi:10.1091/mbc.e05-02-0159 · Cited by 308 · see citing works
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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
- van de Kamp, J. M., Errami, A., Howidi, M., Anselm, I., Winter, S., Phalin‐Roque, J., Osaka, H., van Dooren, S. J. M., Mancini, G. M., Steinberg, S. J., & Salomons, G. S.
- Affiliations
- Department of Clinical Genetics VU University Medical Center Amsterdam The Netherlands
- MRC Holland (Netherlands) (NL)
- Mafraq Hospital (AE)
- Boston Children's Hospital (US)
- Children's Hospital Central California (US)
- Children's Hospital Central California Madera CA USA
- Kanagawa Children's Medical Center (JP)
- Department of Clinical Chemistry, Metabolic Unit VU University Medical Center Amsterdam The Netherlands
- Erasmus MC (NL)
- Kennedy Krieger Institute (US)
- Amsterdam UMC Location Vrije Universiteit Amsterdam (NL)
- Venue
- Clinical Genetics
- Publisher
- Wiley
- Published
- 2014-03-06
- Volume
- 87
- Issue
- 2
- Pages
- 141-147
- ISSN
- 0009-9163 (ISSN-L)
- 1399-0004
- OpenAlex
- W1573308396
- Cited by
- 33
- References
- 1
- Citations by year
- 2025: 5 · 2024: 2 · 2023: 3 · 2022: 2 · 2021: 3 · 2020: 5 · 2019: 3 · 2018: 1 · 2017: 1 · 2016: 4 · 2015: 2 · 2014: 2
- FWCI
- 2.08
- Type
- journal article
- Language
- en
- Open access
- green
- pure.amsterdamumc.nl
- Licence
- Locations
- Clinical Genetics (publishedVersion)
- PubMed (publishedVersion)
- Pure Amsterdam UMC (publishedVersion, other-oa)
- VU Research Portal (publishedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (submittedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Keywords
- contiguous gene deletion, genotype-phenotype correlation, SLC6A8, BCAP31, ABCD1, X-linked adrenoleukodystrophy, hepatic cholestasis, developmental delay, deafness, dystonia, regulatory elements
- MeSH terms
- ATP Binding Cassette Transporter, Subfamily D, Member 1, Adrenoleukodystrophy, Adult, Child, Child, Preschool, Cholestasis, Intrahepatic, Creatine, Humans, Infant, Infant, Newborn, Male, Membrane Proteins, Intellectual Disability, Nerve Tissue Proteins, Phenotype, Gene Deletion, ATP-Binding Cassette Transporters, Brain Diseases, Metabolic, Inborn, Mental Retardation, X-Linked, X-Linked Intellectual Disability, Plasma Membrane Neurotransmitter Transport Proteins, Genetic Association Studies
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