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Identification of a novel WAS mutation in a South African patient presenting with atypical Wiskott-Aldrich syndrome : a case report

dc.contributor.authorGlanzmann, Brigitteen_ZA
dc.contributor.authorMöller, Marloen_ZA
dc.contributor.authorSchoeman, Mardelleen_ZA
dc.contributor.authorUrban, Michaelen_ZA
dc.contributor.authorVan Helden, Paul D.en_ZA
dc.contributor.authorFrigati, Lisaen_ZA
dc.contributor.authorGrewal, Ravniten_ZA
dc.contributor.authorPieters, Hermanusen_ZA
dc.contributor.authorLoos, Benen_ZA
dc.contributor.authorHoal, Eileen G.en_ZA
dc.contributor.authorGlashoff, Richard H.en_ZA
dc.contributor.authorCornelissen, Helenaen_ZA
dc.contributor.authorRabie, Helenaen_ZA
dc.contributor.authorEsser, Monika M.en_ZA
dc.contributor.authorKinnear, Craig J.en_ZA
dc.date.accessioned2020-06-25T12:30:40Z
dc.date.available2020-06-25T12:30:40Z
dc.date.issued2020-06-05
dc.identifier.citationGlanzmann, B., et al. 2020. Identification of a novel WAS mutation in a South African patient presenting with atypical Wiskott-Aldrich syndrome : a case report. BMC Medical Genetics, 21:124, doi:10.1186/s12881-020-01054-6
dc.identifier.issn1471-2350 (online)
dc.identifier.otherdoi:10.1186/s12881-020-01054-6
dc.identifier.urihttp://hdl.handle.net/10019.1/108674
dc.descriptionCITATION: Glanzmann, B., et al. 2020. Identification of a novel WAS mutation in a South African patient presenting with atypical Wiskott-Aldrich syndrome : a case report. BMC Medical Genetics, 21:124, doi:10.1186/s12881-020-01054-6.
dc.descriptionThe original publication is available at https://bmcmedgenet.biomedcentral.com
dc.description.abstractBackground: The X-linked recessive primary immunodeficiency disease (PIDD) Wiskott-Aldrich syndrome (WAS) is identified by an extreme susceptibility to infections, eczema and thrombocytopenia with microplatelets. The syndrome, the result of mutations in the WAS gene which encodes the Wiskott-Aldrich protein (WASp), has wide clinical phenotype variation, ranging from classical WAS to X-linked thrombocytopaenia and X-linked neutropaenia. In many cases, the diagnosis of WAS in first affected males is delayed, because patients may not present with the classic signs and symptoms, which may intersect with other thrombocytopenia causes. Case presentation: Here, we describe a three-year-old HIV negative boy presenting with recurrent infections, skin rashes, features of autoimmunity and atopy. However, platelets were initially reported as normal in numbers and morphology as were baseline immune investigations. An older male sibling had died in infancy from suspected immunodeficiency. Uncertainty of diagnosis and suspected severe PIDD prompted urgent further molecular investigation. Whole exome sequencing identified c. 397 G > A as a novel hemizygous missense mutation located in exon 4 of WAS. Conclusion: With definitive molecular diagnosis, we could target treatment and offer genetic counselling and prenatal diagnostic testing to the family. The identification of novel variants is important to confirm phenotype variations of a syndrome.
dc.description.urihttps://bmcmedgenet.biomedcentral.com/articles/10.1186/s12881-020-01054-6
dc.format.extent8 pages
dc.language.isoen_ZAen_ZA
dc.publisherBioMed Central
dc.subjectExome sequencing
dc.titleIdentification of a novel WAS mutation in a South African patient presenting with atypical Wiskott-Aldrich syndrome : a case reporten_ZA
dc.typeArticle
dc.date.updated2020-06-07T05:55:52Z
dc.description.versionPublisher's version
dc.rights.holderAuthors retain copyright


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