Recurrent de novo pathogenic variant of WASF1 in a Japanese patient with neurodevelopmental disorder with absent language and variable seizures
Open accessAbstract
A recurrent de novo pathogenic variant of WASF1, NM_003931:c.1516C>T [p.Arg506*], was identified in a 6-year-old female Japanese patient with severe developmental delay, hypotonia, hyperkinetic behavior, and distinctive facial features. The initial report of five adult patients with WASF1 variants was the only previous report regarding variants of this gene; this is the second such report, reaffirming that rare but recurrent truncating variants of WASF1 are associated with severe neurodevelopmental disorders.
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Among two nonsense variants and one frameshift variant, the recurrent variant p.Arg506Ter has been identified in three individuals.
“Among two nonsense variants and one frameshift variant, the recurrent variant p.Arg506Ter has been identified in three individuals94–97.”
From The WAVE complex in developmental and adulthood brain disorders (2025) · cites this paper as [94]
The paper lists two nonsense variants and one frameshift variant, and says three patients in the earlier report had p.Arg506* (p.Arg506Ter). But its Abstract also identifies that variant in the present patient, bringing the total reported in this paper to four. The unqualified count of three is therefore supported only for the earlier report. (LLM, conf=0.88)
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Research works printed but not linked: 5
- [1]Ito Y De novo truncating mutations in WASF1 cause intellectual disability with seizures Am. J. Hum. Genet. 2018 103 144 153 10.1016/j.ajhg.2018.06.001 29961568 PMC6037130 · DOI · Paper page
- [2]Yanagishita T A recurrent de novo ZSWIM6 variant in a Japanese patient with severe neurodevelopmental delay and frequent vomiting Hum. Genome Var. 2021 8 16 10.1038/s41439-021-00148-8 33958584 PMC8102537 · DOI
- [3]Yanagishita T HECW2-related disorder in four Japanese patients Am. J. Med. Genet. A 2021 185 2895 2902 10.1002/ajmg.a.62363 34047014 · DOI
- [4]Rosenfeld JA Genotype-phenotype correlation in interstitial 6q deletions: a report of 12 new cases Neurogenetics 2012 13 31 47 10.1007/s10048-011-0306-5 22218741 · DOI
- [5]Shukla A Phenotypic variability in patients with interstitial 6q21-q22 microdeletion and Acro-Cardio-Facial syndrome Am. J. Med. Genet. A 2016 170 2998 3003 10.1002/ajmg.a.37759 27191798 · DOI
Cited by
Sorted by citations
The WAVE complex in developmental and adulthood brain disorders
Kim, H.-G., Berdasco, C., Nairn, A. C., & Kim, Y. (2025) · Experimental & Molecular Medicine · doi:10.1038/s12276-024-01386-w · Cited by 8 · see citing works
- Authors
- Shimojima Yamamoto, K., Yanagishita, T., Yamamoto, H., Miyamoto, Y., Nagata, M., Ishihara, Y., Miyashita, Y., Asano, Y., Sakata, Y., & Yamamoto, T.
- Affiliations
- Tokyo Women's Medical University (JP)
- St. Marianna University School of Medicine (JP)
- The University of Osaka (JP)
- Corresponding author
- Yamamoto, Toshiyuki
- ORCID
- Venue
- Human Genome Variation
- Published
- 2021-11-29
- Volume
- 8
- Issue
- 1
- Pages
- 43-43
- ISSN
- 2054-345X (ISSN-L)
- PMC
- PMC8629972
- OpenAlex
- W3215369152
- Cited by
- 9
- References
- 0
- Citations by year
- 2026: 1 · 2025: 1 · 2024: 1 · 2023: 4 · 2022: 2
- FWCI
- 0.99
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- Human Genome Variation (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Funders
- Japan Agency for Medical Research and Development (20ek0109301h0003)
- Japan Society for the Promotion of Science (19H03652, 21K07873)
- 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 › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Keywords
- truncating mutations, neurodevelopmental disorders, developmental delay, hypotonia, hyperkinetic behavior, seizures, facial dysmorphism
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