The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.
The recurrent WASF1 nonsense variant identified in two unaffected Chinese families with neurodevelopmental disorder: case report and review of the literatures
Open accessAbstract
Background: Neurodevelopmental disorder with absent language and variable seizures (NEDALVS, # 618707) are characterized by delayed speech and motor development, ocular abnormalities, and seizures. NEDAVLS is an autosomal dominant disorder caused by de novo mutations in the wasp protein family member 1 (WASF1) gene. Case presentation: We identified a de novo nonsense variant c.1516 C > T (p.Arg506*) of WASF1 gene (NM_003931.3) in two pediatric female patients with delayed motor and language development. Conclusion: This case demonstrates the effective role of WES in the diagnosis of NEDALVS. To the best of our knowledge, this variant has not been reported in the Chinese population. This contributes to our further understanding of the disease and to research related to the genetic and clinical heterogeneity, the treatment and prognosis of the disease.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
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 [96]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
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
Flagged first, then by citations
Research works printed but not linked: 16
- Zhao A, Zhou R, Gu Q, Liu M, Zhang B, Huang J, Yang B, Yao R, Wang J, Lv H, et al. Trio exome sequencing identified a novel de novo WASF1 missense variant leading to recurrent site substitution in a chinese patient with developmental delay, microcephaly, and early-onset seizures: a mutational hotspot p.Trp161 and literature review. Clin Chim Acta. 2021;523:10–8. · DOI · Paper page
- Shimojima Yamamoto K, Yanagishita T, Yamamoto H, Miyamoto Y, Nagata M, Ishihara Y, Miyashita Y, Asano Y, Sakata Y, Yamamoto T. Recurrent de novo pathogenic variant of WASF1 in a japanese patient with neurodevelopmental disorder with absent language and variable seizures. Hum Genome Var. 2021;8(1):43. · DOI · Paper page
- Ito Y, Carss KJ, Duarte ST, Hartley T, Keren B, Kurian MA, Marey I, Charles P, Mendonça C, Nava C, et al. De Novo truncating mutations in WASF1 cause intellectual disability with seizures. Am J Hum Genet. 2018;103(1):144–53. · DOI · Paper page
- Machesky LM, Insall RH. Scar1 and the related Wiskott-Aldrich syndrome protein, WASP, regulate the actin cytoskeleton through the Arp2/3 complex. Curr Biol. 1998;8(25):1347–56. · DOI
- Veltman DM, Insall RH. WASP family proteins: their evolution and its physiological implications. Mol Biol Cell. 2010;21(16):2880–93. · DOI
- Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405–24. · DOI · Paper page
- Machesky LM, Insall RH, Volkman LE. WASP homology sequences in baculoviruses. Trends Cell Biol. 2001;11(7):286–7. · DOI
- Paunola E, Mattila PK, Lappalainen P. WH2 domain: a small, versatile adapter for actin monomers. FEBS Lett. 2002;513(1):92–7. · DOI
- Thanabalu T, Munn AL. Functions of Vrp1p in cytokinesis and actin patches are distinct and neither requires a WH2/V domain. Embo j. 2001;20(24):6979–89. · DOI
- Liu H, Wang Y, Li Y, Tao L, Zhang Y, He X, Zhou Y, Liu X, Wang Y, Li L. Clinical and genetic analysis of 2 rare cases of Wiskott-Aldrich syndrome from chinese minorities: two case reports. Med (Baltim). 2021;100(16):e25527. · DOI
- Sereni L, Castiello MC, Villa A. Platelets in Wiskott-Aldrich syndrome: victims or executioners? J Leukoc Biol. 2018;103(3):577–90. · DOI
- Schrank BR, Aparicio T, Li Y, Chang W, Chait BT, Gundersen GG, Gottesman ME, Gautier J. Nuclear ARP2/3 drives DNA break clustering for homology-directed repair. Nature. 2018;559(7712):61–6. · DOI
- Wang Y, Kang W, Shang L, Song A, Ge S. N-WASP knockdown upregulates inflammatory cytokines expression in human gingival fibroblasts. Arch Oral Biol. 2020;110:104605. · DOI
- Burianek LE, Soderling SH. Under lock and key: spatiotemporal regulation of WASP family proteins coordinates separate dynamic cellular processes. Semin Cell Dev Biol. 2013;24(4):258–66. · DOI
- Tyler JJ, Smaczynska-de R, Abugharsa II, Palmer L, Hancock JS, Allwood LP, Ayscough EG. Phosphorylation of the WH2 domain in yeast Las17/WASP regulates G-actin binding and protein function during endocytosis. Sci Rep. 2021;11(1):9718. · DOI
- Wang F, Zhang L, Zhang GL, Wang ZB, Cui XS, Kim NH, Sun SC. WASH complex regulates Arp2/3 complex for actin-based polar body extrusion in mouse oocytes. Sci Rep. 2014;4:5596. · 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
Metadata
- Authors
- Tang, X., Liu, G., Lin, L., Xiao, N., & Chen, Y.
- Affiliations
- Children's Hospital of Chongqing Medical University (CN)
- Corresponding author
- Chen, Yuxia
- Venue
- BMC Medical Genomics
- Published
- 2023-08-28
- Volume
- 16
- Issue
- 1
- Pages
- 203-203
- ISSN
- 1755-8794 (ISSN-L)
- PMC
- PMC10464119
- OpenAlex
- W4386219754
- Cited by
- 3
- References
- 1
- Citations by year
- 2026: 1 · 2025: 1 · 2024: 1
- FWCI
- 0.50
- Type
- journal article
- Language
- en
- Open access
- gold
- dx.doi.org
- Locations
- BMC Medical Genomics (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- 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
- nonsense mutation, de novo mutations, autosomal dominant inheritance, language delay, delayed motor development, seizures, ocular abnormalities, whole exome sequencing diagnosis, Chinese family
- MeSH terms
- East Asian People, Child, Female, Humans, Seizures, Wiskott-Aldrich Syndrome Protein Family, Neurodevelopmental Disorders
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
