Further delineation of BCAP31‐linked intellectual disability: description of 17 new families with LoF and missense variants
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Similar features were reported in another male infant with a 60 kb deletion including BCAP31, ABCD1, and PLXNB3 who died of respiratory failure at 16 months.
“Similar features were reported in another male infant with a 60 kb deletion including BCAP31, ABCD1, and PLXNB3 who died of respiratory failure at 16 months, 9”
From Interstitial lung disease and pancreatic exocrine insufficiency in <scp>CADDS</scp>: Phenotypic expansion and literature review (2023) · cites this paper as [9]
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 [9]
The “Male patient with CADDS” section (page unavailable) identifies a patient whose deletion included PLXNB3, but does not state whether he had congenital heart disease. The passages on CADDS and adjacent-gene deletions (page unavailable) likewise do not address congenital heart disease; searches for heart and cardiac anomalies found no decisive passage. An omitted feature is not evidence that it was absent in every patient. (LLM, conf=0.72)
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Richards, S., Aziz, N., Bale, S., Bick, D., Das, S., Gastier-Foster, J., Grody, W. W., Hegde, M., Lyon, E., Spector, E., et al. (2015) · Genetics in Medicine · doi:10.1038/gim.2015.30 · Cited by 32,594 · see citing works
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Research works printed but not linked: 24
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Cited by
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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
- Whalen, S., Shaw, M., Mignot, C., Héron, D., Bastaraud, S. C., Walti, C. C., Liebelt, J., Elmslie, F., Yap, P., Hurst, J., Forsythe, E., Kirmse, B., Ozmore, J., Spinelli, A. M., Calabrese, O., de Villemeur, T. B., Tabet, A. C., Levy, J., Guet, A., Kossorotoff, M., Kamien, B., Morton, J., McCabe, A., Brischoux-Boucher, E., Raas-Rothschild, A., Pini, A., Carroll, R., Hartley, J. N., Care4Rare Canada Consortium, Boycott, K., Brudno, M., Bernier, F., van Karnebeek, C., Dyment, D., Kernohan, K., Innes, M., Lamont, R., Parboosingh, J., Marshall, D., Marshall, C., Mendoza, R., Dowling, J., Hayeems, R., Knoppers, B., Lehman, A., Mostafavi, S., Frosk, P., Slavotinek, A., Truxal, K., Jennifer, C., Dheedene, A., Cui, H., Kumar, V., Thomson, G., Riccardi, F., Gecz, J., & Villard, L.
- Affiliations
- Sorbonne Université (FR)
- The University of Adelaide (AU)
- Women's and Children's Hospital (AU)
- St George's Hospital (GB)
- Great Ormond Street Hospital (GB)
- University of Mississippi Medical Center (US)
- Dartmouth–Hitchcock Medical Center (US)
- University of Modena and Reggio Emilia (IT)
- Assistance Publique – Hôpitaux de Paris (FR)
- Hôpital Necker-Enfants Malades (FR)
- King Edward Memorial Hospital (AU)
- Birmingham Women's Hospital (GB)
- Istituto delle Scienze Neurologiche di Bologna (IT)
- University of Manitoba (CA)
- University of Ottawa (CA)
- University of Toronto (CA)
- Children's Hospital of Eastern Ontario (CA)
- University of Calgary (CA)
- McGill University (CA)
- University of British Columbia (CA)
- University of California, San Francisco (US)
- Nationwide Children's Hospital (US)
- Ghent University Hospital (BE)
- San Francisco General Hospital (US)
- Starship Children's Health (NZ)
- Inserm (FR)
- Corresponding author
- Whalen, Sandra
- ORCID
- Whalen, Sandra
- Mignot, Cyril
- Héron, Delphine
- Elmslie, Frances
- Yap, Patrick
- Kirmse, Brian
- Spinelli, Alessandro Mauro
- Calabrese, Olga
- Kossorotoff, Manoëlle
- Kamien, Benjamin
- McCabe, Anne
- Brischoux-Boucher, Elise
- Carroll, Renée
- Hartley, Jessica N.
- Boycott, Kym
- Brudno, Michael
- Dyment, David
- Kernohan, Kristin
- Lamont, Ryan
- Marshall, Deborah
- Marshall, Christian
- Dowling, James
- Hayeems, Robin
- Knoppers, Bartha
- Mostafavi, Sara
- Frosk, Patrick
- Slavotinek, Anne
- Truxal, Kristen
- Jennifer, Carroll
- Dheedene, Annelies
- Cui, Hong
- Kumar, Vishal
- Riccardi, Florence
- Gecz, Jozef
- Villard, Laurent
- Venue
- European Journal of Human Genetics
- Published
- 2021-02-18
- Volume
- 29
- Issue
- 9
- Pages
- 1405-1417
- ISSN
- 1018-4813 (ISSN-L)
- 1476-5438
- PMC
- PMC8440520
- OpenAlex
- W3130280597
- Cited by
- 15
- References
- 1
- Citations by year
- 2026: 4 · 2025: 4 · 2024: 3 · 2023: 2 · 2022: 2
- FWCI
- 0.99
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- European Journal of Human Genetics (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Ghent University Academic Bibliography (Ghent University) (publishedVersion)
- HAL (submittedVersion, other-oa)
- Data Archiving and Networked Services (DANS) (submittedVersion, other-oa)
- Ghent University Academic Bibliography (Ghent University) (submittedVersion)
- Adelaide Research & Scholarship (AR&S) (University of Adelaide) (submittedVersion)
- eScholarship (California Digital Library) (submittedVersion)
- Pure Amsterdam UMC (submittedVersion, cc-by)
- Funders
- U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute (U01HG009599)
- GeneDx
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Keywords
- BCAP31, BAP31, intellectual disability, deafness, dystonia, contiguous gene deletion, ABCD1, SLC6A8, cholestatic liver disease, loss-of-function mutations, missense mutations, female carriers, Xq28, ER-Golgi transport
- MeSH terms
- Loss of Function Mutation, Adolescent, Adult, Child, Child, Preschool, Deafness, Female, Humans, Male, Membrane Proteins, Intellectual Disability, Pedigree, Phenotype, Syndrome, Mutation, Missense, Hereditary Central Nervous System Demyelinating Diseases
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