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Cited by 41Genetics and Neurodevelopmental DisordersGenomics and Rare DiseasesDown syndrome and intellectual disability research

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

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Ito, Yoko, Carss, Keren J., Duarte, Sofia T., Hartley, Taila, Keren, Boris, Kurian, Manju A., Marey, Isabelle, Charles, Perinne +367 more·2018·The American Journal of Human Genetics
DOI 10.1016/j.ajhg.2018.06.001PMC PMC6037130
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Abstract

Next-generation sequencing has been invaluable in the elucidation of the genetic etiology of many subtypes of intellectual disability in recent years. Here, using exome sequencing and whole-genome sequencing, we identified three de novo truncating mutations in WAS protein family member 1 (WASF1) in five unrelated individuals with moderate to profound intellectual disability with autistic features and seizures. WASF1, also known as WAVE1, is part of the WAVE complex and acts as a mediator between Rac-GTPase and actin to induce actin polymerization. The three mutations connected by Matchmaker Exchange were c.1516C>T (p.Arg506Ter), which occurs in three unrelated individuals, c.1558C>T (p.Gln520Ter), and c.1482delinsGCCAGG (p.Ile494MetfsTer23). All three variants are predicted to partially or fully disrupt the C-terminal actin-binding WCA domain. Functional studies using fibroblast cells from two affected individuals with the c.1516C>T mutation showed a truncated WASF1 and a defect in actin remodeling. This study provides evidence that de novo heterozygous mutations in WASF1 cause a rare form of intellectual disability.

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  • A probability of LoF intolerance score of 0.91 for WASF1 suggests that LoF is likely the underlying mechanism of the variant.

    “In addition, a probability of LoF intolerance (pLI) score of 0.91 for WASF193 suggests that LoF is likely the underlying mechanism of the variant.”

    From The WAVE complex in developmental and adulthood brain disorders (2025) · cites this paper as [93]

    The Main Text reports that WASF1 is constrained for loss-of-function variation, with a pLI of 0.91. But it does not infer from that score that loss of function is the variant’s likely mechanism. Instead, it says the observed truncated protein suggests altered mutant-protein function rather than complete protein loss or haploinsufficiency. (LLM, conf=0.87)

    Experimental — accuracy not yet measured

  • Ito et al. first identified three de novo heterozygous truncating variants clustered around the C-terminal WH2 domain in five unrelated individuals with overlapping neurodevelopmental phenotypes, including severe ID with autistic features and seizures.

    “Ito et al. first identified three de novo heterozygous truncating variants clustered around the C-terminal WH2 domain in five unrelated individuals with overlapping neurodevelopmental phenotypes, including severe ID with autistic features and seizures93 (Table 2a).”

    From The WAVE complex in developmental and adulthood brain disorders (2025) · cites this paper as [93]

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Authors
Ito, Y., Carss, K. J., Duarte, S. T., Hartley, T., Keren, B., Kurian, M. A., Marey, I., Charles, P., Mendonça, C., Nava, C., Pfundt, R., Sanchis-Juan, A., van Bokhoven, H., van Essen, A., van Ravenswaaij-Arts, C., Aitman, T., Bennett, D., Caulfield, M., Chinnery, P., Gale, D., Koziell, A., Kuijpers, T. W., Laffan, M. A., Maher, E., Markus, H. S., Morrell, N. W., Ouwehand, W. H., Perry, D. J., Raymond, F. L., Roberts, I., Smith, K. G. C., Thrasher, A., Watkins, H., Williamson, C., Woods, G., Ashford, S., Bradley, J. R., Fletcher, D., Hammerton, T., James, R., Kingston, N., Penkett, C. J., Stirrups, K., Veltman, M., Young, T., Brown, M., Clements-Brod, N., Davis, J., Dewhurst, E., Dolling, H., Erwood, M., Frary, A., Linger, R., Martin, J. M., Papadia, S., Rehnstrom, K., Stark, H., Allsup, D., Austin, S., Bakchoul, T., Bariana, T. K., Bolton-Maggs, P., Chalmers, E., Collins, J., Collins, P., Erber, W. N., Everington, T., Favier, R., Freson, K., Furie, B., Gattens, M., Gebhart, J., Gomez, K., Greene, D., Greinacher, A., Gresele, P., Hart, D., Heemskerk, J. W. M., Henskens, Y., Kazmi, R., Keeling, D., Kelly, A. M., Lambert, M. P., Lentaigne, C., Liesner, R., Makris, M., Mangles, S., Mathias, M., Millar, C. M., Mumford, A., Nurden, P., Payne, J., Pasi, J., Peerlinck, K., Revel-Vilk, S., Richards, M., Rondina, M., Roughley, C., Schulman, S., Schulze, H., Scully, M., Sivapalaratnam, S., Stubbs, M., Tait, R. C., Talks, K., Thachil, J., Toh, C.-H., Turro, E., Van Geet, C., De Vries, M., Warner, T. Q., Watson, H., Westbury, S., Furnell, A., Mapeta, R., Rayner-Matthews, P., Simeoni, I., Staines, S., Stephens, J., Watt, C., Whitehorn, D., Attwood, A., Daugherty, L., Deevi, S. V. V., Halmagyi, C., Hu, F., Matser, V., Meacham, S., Megy, K., Shamardina, O., Titterton, C., Tuna, S., Yu, P., von Ziegenweldt, J., Astle, W., Bleda, M., Carss, K. J., Gräf, S., Haimel, M., Lango-Allen, H., Richardson, S., Calleja, P., Rankin, S., Turek, W., Anderson, J., Bryson, C., Carmichael, J., McJannet, C., Stock, S., Allen, L., Ambegaonkar, G., Armstrong, R., Arno, G., Bitner-Glindzicz, M., Brady, A., Canham, N., Chitre, M., Clement, E., Clowes, V., Deegan, P., Deshpande, C., Doffinger, R., Firth, H., Flinter, F., French, C., Gardham, A., Ghali, N., Gissen, P., Grozeva, D., Henderson, R., Hensiek, A., Holden, S., Holder, M., Holder, S., Hurst, J., Josifova, D., Krishnakumar, D., Kurian, M. A., Lees, M., MacLaren, R., Maw, A., Mehta, S., Michaelides, M., Moore, A., Murphy, E., Park, S.-M., Parker, A., Patch, C., Paterson, J., Rankin, J., Reid, E., Rosser, E., Sanchis-Juan, A., Sandford, R., Santra, S., Scott, R., Sohal, A., Stein, P., Thomas, E., Thompson, D., Tischkowitz, M., Vogt, J., Wakeling, E., Wassmer, E., Webster, A., Ali, S., Ali, S., Boggard, H. J., Church, C., Coghlan, G., Cookson, V., Corris, P. A., Creaser-Myers, A., DaCosta, R., Dormand, N., Eyries, M., Gall, H., Ghataorhe, P. K., Ghio, S., Ghofrani, A., Gibbs, J. S. R., Girerd, B., Greenhalgh, A., Hadinnapola, C., Houweling, A. C., Humbert, M., in’t Veld, A. H., Kennedy, F., Kiely, D. G., Kovacs, G., Lawrie, A., Ross, R. V. M., Machado, R., Masati, L., Meehan, S., Moledina, S., Montani, D., Othman, S., Peacock, A. J., Pepke-Zaba, J., Pollock, V., Polwarth, G., Ranganathan, L., Rhodes, C. J., Rue-Albrecht, K., Schotte, G., Shipley, D., Soubrier, F., Southgate, L., Scelsi, L., Suntharalingam, J., Tan, Y., Toshner, M., Treacy, C. M., Trembath, R., Vonk Noordegraaf, A., Walker, S., Wanjiku, I., Wharton, J., Wilkins, M., Wort, S. J., Yates, K., Alachkar, H., Antrobus, R., Arumugakani, G., Bacchelli, C., Baxendale, H., Bethune, C., Bibi, S., Booth, C., Browning, M., Burns, S., Chandra, A., Cooper, N., Davies, S., Devlin, L., Drewe, E., Edgar, D., Egner, W., Ghurye, R., Gilmour, K., Goddard, S., Gordins, P., Grigoriadou, S., Hackett, S., Hague, R., Harper, L., Hayman, G., Herwadkar, A., Huissoon, A., Jolles, S., Kelleher, P., Kumararatne, D., Lear, S., Longhurst, H., Lorenzo, L., Maimaris, J., Manson, A., McDermott, E., Murng, S., Nejentsev, S., Noorani, S., Oksenhendler, E., Ponsford, M., Qasim, W., Quinti, I., Richter, A., Samarghitean, C., Sargur, R., Savic, S., Seneviratne, S., Sewell, C., Staples, E., Stauss, H., Thaventhiran, J., Thomas, M., Welch, S., Willcocks, L., Yeatman, N., Yong, P., Ancliff, P., Babbs, C., Layton, M., Louka, E., McGowan, S., Mead, A., Roy, N., Chambers, J., Dixon, P., Estiu, C., Hague, B., Marschall, H.-U., Simpson, M., Chong, S., Emmerson, I., Ginsberg, L., Gosal, D., Hadden, R., Horvath, R., Mahdi-Rogers, M., Manzur, A., Marshall, A., Matthews, E., McCarthy, M., Reilly, M., Renton, T., Rice, A., Themistocleous, A., Vale, T., Van Zuydam, N., Walker, S., Ormondroyd, L., Hudson, G., Wei, W., Yu Wai Man, P., Whitworth, J., Afzal, M., Colby, E., Saleem, M., Alavijeh, O. S., Cook, H. T., Johnson, S., Levine, A. P., Wong, E. K. S., Tan, R., Boycott, K. M., MacKenzie, A., Majewski, J., Brudno, M., Bulman, D., Dyment, D., Boycott, K. M., Kernohan, K. D., Dyack, S., & Raymond, F. L.
Affiliations
  • University of Ottawa (CA)
  • Assistance Publique – Hôpitaux de Paris (FR)
  • Radboud University Medical Center (NL)
  • University Medical Center Groningen (NL)
  • University of Cambridge (GB)
  • Unidade Local de Saúde de São José (PT)
  • Dalhousie University (CA)
  • University College London (GB)
  • Unité de recherche sur les maladies cardiovasculaires et métaboliques (FR)
ORCID
Venue
The American Journal of Human Genetics
Publisher
Elsevier BV
Published
2018-07
Volume
103
Issue
1
Pages
144-153
ISSN
0002-9297 (ISSN-L)
DOI
10.1016/j.ajhg.2018.06.001
PMC
PMC6037130
OpenAlex
W2810862321
Cited by
41
References
8
Citations by year
2026: 3 · 2025: 3 · 2024: 3 · 2023: 10 · 2022: 6 · 2021: 6 · 2020: 7 · 2019: 2 · 2018: 1
FWCI
2.42
Type
journal article
Language
en
Open access
Licence
Locations
  • The American Journal of Human Genetics (publishedVersion, cc-by-nc-nd)
  • Europe PMC (PubMed Central) (publishedVersion, cc-by-nc-nd)
  • PubMed Central (publishedVersion, cc-by-nc-nd)
  • PubMed (publishedVersion)
  • Research Publications (Maastricht University) (publishedVersion, cc-by-nc-nd)
  • Pure Amsterdam UMC (publishedVersion, other-oa)
  • Amsterdam UMC (VU Amsterdam) - Institutional Repository (publishedVersion, other-oa)
  • White Rose Research Online (University of Leeds, The University of Sheffield, University of York) (acceptedVersion)
  • ORCA Online Research @Cardiff (Cardiff University) (acceptedVersion)
  • St George's Online Research Archive (St George's University of London) (acceptedVersion)
  • Research Portal (King's College London) (submittedVersion, cc-by-nc-nd)
  • Lirias (submittedVersion, other-oa)
  • Oxford University Research Archive (ORA) (University of Oxford) (submittedVersion, cc-by-nc-nd)
  • Apollo (University of Cambridge) (submittedVersion, cc-by-nc-nd)
  • Data Archiving and Networked Services (DANS) (submittedVersion, other-oa)
  • HAL (submittedVersion)
  • UCL Discovery (University College London) (submittedVersion)
  • University of Groningen research database (University of Groningen / Centre for Information Technology) (submittedVersion, cc-by-nc-nd)
  • Portuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT) (submittedVersion, other-oa)
  • Radboud Repository (Radboud University) (submittedVersion)
  • Spiral (Imperial College London) (submittedVersion, cc-by-nc-nd)
  • Radboud Repository (Radboud University) (submittedVersion, other-oa)
  • Research Publications (Maastricht University) (submittedVersion, other-oa)
  • Apollo
Funders
  • Canadian Institutes of Health Research
  • National Institute for Health Research (RG65966)
  • Genome Canada
  • Ontario Genomics Institute
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
  • Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
Keywords
WAVE1, autism spectrum disorder, WAVE complex, actin polymerization, actin cytoskeleton remodeling
MeSH terms
Exome Sequencing, Adult, Female, Heterozygote, Humans, Male, Intellectual Disability, Mutation, Seizures, Wiskott-Aldrich Syndrome Protein Family, Young Adult

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