Isolation of a novel gene mutated in Wiskott-Aldrich syndrome

@article{Derry1994IsolationOA,
  title={Isolation of a novel gene mutated in Wiskott-Aldrich syndrome},
  author={Jonathan M. J. Derry and Hans D. Ochs and Uta Francke},
  journal={Cell},
  year={1994},
  volume={78},
  pages={635-644}
}
A novel WASP gene mutation in a Chinese boy with Wiskott–Aldrich syndrome
TLDR
A 2-year-old Chinese boy who presented with classic clinical WAS manifestations was identified with a novel mutation: the first nucleotide in exon 8 (G) had been deleted (769delG), which results in two kinds of aberrant mRNA with abnormal splicing and causes frameshift and a stop codon at amino acid 260.
A Novel Mutation W252X in the WAS Gene in a Korean Patient with Wiskott-Aldrich Syndrome
TLDR
Direct sequence analysis of the entire coding region of the WAS gene showed a novel nonsense mutation with a G-to-A substitution at the nucleotide position 756 on exon 8, leading to a premature termination at codon 252 (c.756G>A; p.W252X).
The Wiskott-Aldrich syndrome
  • H. Ochs
  • Medicine, Biology
    Seminars in hematology
  • 1998
TLDR
The identification of the WASP gene allows the diagnosis of Wiskott-Aldrich syndrome on a molecular basis, carrier detection, and prenatal diagnosis, and the detection of the increased risk of autoimmune diseases and malignancies was recognized.
X-linked Wiskott-Aldrich syndrome in a girl.
The Wiskott–Aldrich syndrome is a life-threatening X-linked recessive disorder. Affected males present with recurrent infections, eczema, and thrombocytopenia with small platelets. The immune defect
A Case of Wiskott-Aldrich Syndrome with Novel Mutation in Exon 2 of the WASP Gene
TLDR
A case of a 13-month old boy with WAS who was identified with the novel mutation in exon 2 of WASP gene by direct sequencing and the complete absence of WasP expression by immunoblotting is reported.
Wiskott-Aldrich syndrome: report of an autosomal dominant variant.
TLDR
Results from this three-generation family, providing the first observation of an autosomally transmitted WAS variant, indicate that genetic mechanism(s) leading to WAS are more complex than previously recognized.
Identification of six novel WASP gene mutations in patients suffering from Wiskott‐Aldrich syndrome
TLDR
The WASP gene of 7 unrelated patients with classical WAS of Dutch descent was examined by single‐strand conformation polymorphism and sequence analysis and 6 novel mutations were identified that involve nonsense mutations, or small deletions that result in predicted truncation of WASP protein synthesis.
Identification of five novel WASP mutations in Chinese families with Wiskott‐Aldrich syndrome
TLDR
Five novel mutations identified, included two nonsense mutations, a small insertion, and two single‐base deletions that are predicted to lead to premature translational termination of WASP.
X–linked thrombocytopenia and Wiskott–Aldrich syndrome are allelic diseases with mutations in the WASP gene
TLDR
The results demonstrate that XLT and WAS are allelic forms of the same disease, but the causes of the differences need to be further investigated.
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References

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Inherited thrombocytopenia, elevated serum IgA and renal disease: identification as a variant of the Wiskott-Aldrich syndrome.
TLDR
A kindred with X-linked hereditary thrombocytopenia in association with elevated serum IgA and a mild nephropathy is described, identified as a novel variant of the Wiskott-Aldrich syndrome.
Linkage of the Wiskott-Aldrich syndrome with polymorphic DNA sequences from the human X chromosome.
  • M. Peacocke, K. Siminovitch
  • Biology, Medicine
    Proceedings of the National Academy of Sciences of the United States of America
  • 1987
TLDR
Results suggest that the WAS locus lies within the pericentric region of the X chromosome and provide an initial step toward identifying the WAS gene and improving the genetic counseling of WAS families.
Carrier detection in Wiskott-Aldrich syndrome: combined use of M27 beta for X-inactivation studies and as a linked probe.
TLDR
The probe M27 beta, which detects both a variable number tandem repeat polymorphism and methylation differences between the active and inactive X chromosome, is used in the investigation of families referred for genetic counseling, and it is possible to assign phase in families where this could not be done by conventional use of linked probes.
T cells of patients with the Wiskott-Aldrich syndrome have a restricted defect in proliferative responses.
TLDR
Findings demonstrate a striking restricted defect in the proliferative response of WAS T cells, which because it is found in cell lines free of secondary changes that occur in the patient circulation must be a reflection of the inherited defective disease gene product.
Evidence for defective transmembrane signaling in B cells from patients with Wiskott-Aldrich syndrome.
TLDR
The association of Wiskott-Aldrich syndrome patients with a defect in the coupling of sIg to signal transduction pathways considered prerequisite for B cell activation, likely at the level of tyrosine phosphorylation is indicated.
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