Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation.

@article{Jin2004MutationsOT,
  title={Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation.},
  author={Yinzhu Jin and Cinzia Mazza and Jacinda R. Christie and Silvia Clara Giliani and Maurilia Fiorini and Patrizia Mella and Francesca Gandellini and Donn M. Stewart and Qili Zhu and David L. G. Nelson and Luigi Daniele Notarangelo and Hans D. Ochs},
  journal={Blood},
  year={2004},
  volume={104 13},
  pages={
          4010-9
        }
}
The Wiskott-Aldrich syndrome (WAS) is an X-linked recessive immune deficiency disorder characterized by thrombocytopenia, small platelet size, eczema, recurrent infections, and increased risk of autoimmune disorders and malignancies. X-linked thrombocytopenia (XLT) is an allelic variant of WAS which presents with a milder phenotype, generally limited to thrombocytopenia. WAS and XLT are caused by mutations of the Wiskott-Aldrich syndrome protein (WASP) gene which encodes a 502-amino acid… 
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Two novel mutations identified in the Wiskott-Aldrich syndrome protein gene cause Wiskott-Aldrich syndrome and thrombocytopenia.
TLDR
Investigation of two novel mutations of the WASP gene in two Spanish families with patients clinically diagnosed as having XLT and WAS finds a missense mutation in exon 12, resulting in the highly conserved glutamic residue changing to glycine at position 485 (D485G), was identified in several members.
Genetic characteristics of eighty-seven patients with the Wiskott-Aldrich syndrome.
Mutations of the Wiskott–Aldrich Syndrome Protein affect protein expression and dictate the clinical phenotypes
  • H. Ochs
  • Biology
    Immunologic research
  • 2009
TLDR
It is difficult to predict the long-term prognosis of a given affected boy solely based on the analysis of WASP expression because there are exceptions to this rule.
A novel Wiskott-Aldrich syndrome protein (WASP) complex mutation identified in a WAS patient results in an aberrant product at the C-terminus from two transcripts with unusual polyA signals
TLDR
A patient affected by WAS with a novel complex mutation, characterized by a small 9 bp deletion followed by an inversion of 151 bp and a gross deletion of 4.3 kb within the Xp11.23 region is reported on.
Whole Wiskott-Aldrich syndrome protein gene deletion identified by high throughput sequencing
TLDR
High throughput sequencing is useful for the verification of WAS on the genetic profile, and has implications for family planning guidance and establishment of clinical programs.
Genotype-Proteotype Linkage in the Wiskott-Aldrich Syndrome1
TLDR
With one notable exception, genotype and proteotype were linked, indicating that a genotype-proteotype registry could be assembled to aid in predicting disease course and planning therapy for newly diagnosed infants.
The Wiskott-Aldrich syndrome.
TLDR
The progress made in dissecting the function of WASP has provided new diagnostic possibilities and has propelled therapeutic strategies from conservative symptomatic treatment to curative hematopoietic stem cell transplantation and toward gene therapy.
Novel WASP mutation in a patient with Wiskott-Aldrich syndrome: Case report and review of the literature.
Recurrent V75M mutation within the Wiskott–Aldrich syndrome protein: description of a homozygous female patient
Abstract:  The Wiskott–Aldrich syndrome is a rare genetic disorder due to mutations in the WAS gene situated on chromosome X. It is comprised of microthrombocytopenia, eczema and immunodeficiency.…
Disruption of hSWI/SNF complexes in T cells by WAS mutations distinguishes X-linked thrombocytopenia from Wiskott-Aldrich syndrome.
TLDR
An indispensable relationship between nuclear-WASp- and hSWI/SNF-complexes in gene activation is defined and molecular distinctions in TH cells that might contribute to disease severity in the XLT/WAS clinical spectrum are revealed.
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References

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TLDR
It is concluded that mutation analysis at the DNA level is not sufficient for predicting clinical course and studies at the transcript and protein level are needed for a better assessment.
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TLDR
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TLDR
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TLDR
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TLDR
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TLDR
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TLDR
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TLDR
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