Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Wiskott-Aldrich syndrome protein

The WAS gene encodes a protein involved in signal transduction to the cytoskeleton. Mutations cause X-linked recessive Wiskott-Aldrich syndrome.

Genetests:

Clinic Method Carrier testing
Turnaround 5
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25
Specimen type genomic DNA

Related Diseases:

Wiskott–Aldrich syndrome
WAS

References:

1.

Lyon MF et. al. (1990) The scurfy mouse mutant has previously unrecognized hematological abnormalities and resembles Wiskott-Aldrich syndrome.

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2.

Greer WL et. al. (1990) Linkage relationships of the Wiskott-Aldrich syndrome to 10 loci in the pericentromeric region of the human X chromosome.

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3.

Greer WL et. al. (1989) Linkage studies of the Wiskott-Aldrich syndrome: polymorphisms at TIMP and the X chromosome centromere are informative markers for genetic prediction.

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4.

Kwan SP et. al. (1988) Genetic mapping of the Wiskott-Aldrich syndrome with two highly-linked polymorphic DNA markers.

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5.

Cryan EF et. al. (1988) Congenital neutropenia and low serum immunoglobulin A: description and investigation of a large kindred.

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6.

Wengler G et. al. (1995) Nonrandom inactivation of the X chromosome in early lineage hematopoietic cells in carriers of Wiskott-Aldrich syndrome.

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7.

Wengler GS et. al. (1995) High prevalence of nonsense, frame shift, and splice-site mutations in 16 patients with full-blown Wiskott-Aldrich syndrome.

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8.

Zhu Q et. al. (1995) The Wiskott-Aldrich syndrome and X-linked congenital thrombocytopenia are caused by mutations of the same gene.

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9.

Kwan SP et. al. (1995) Identification of mutations in the Wiskott-Aldrich syndrome gene and characterization of a polymorphic dinucleotide repeat at DXS6940, adjacent to the disease gene.

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10.

Villa A et. al. (1995) X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene.

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11.

Derry JM et. al. (1994) Isolation of a novel gene mutated in Wiskott-Aldrich syndrome.

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12.

Kolluri R et. al. (1995) Identification of WASP mutations in patients with Wiskott-Aldrich syndrome and isolated thrombocytopenia reveals allelic heterogeneity at the WAS locus.

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13.

Derry JM et. al. (1995) WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia.

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14.

Kwan SP et. al. (1995) Scanning of the Wiskott-Aldrich syndrome (WAS) gene: identification of 18 novel alterations including a possible mutation hotspot at Arg86 resulting in thrombocytopenia, a mild WAS phenotype.

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15.

Symons M et. al. (1996) Wiskott-Aldrich syndrome protein, a novel effector for the GTPase CDC42Hs, is implicated in actin polymerization.

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16.

Kolluri R et. al. (1996) Direct interaction of the Wiskott-Aldrich syndrome protein with the GTPase Cdc42.

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17.

Stewart DM et. al. (1996) Studies of the expression of the Wiskott-Aldrich syndrome protein.

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18.

Derry JM et. al. (1995) The mouse homolog of the Wiskott-Aldrich syndrome protein (WASP) gene is highly conserved and maps near the scurfy (sf) mutation on the X chromosome.

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19.

Hirschhorn R et. al. (1996) Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency.

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20.

Schindelhauer D et. al. (1996) Wiskott-Aldrich syndrome: no strict genotype-phenotype correlations but clustering of missense mutations in the amino-terminal part of the WASP gene product.

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21.

de Saint Basile G et. al. (1996) Isolated X-linked thrombocytopenia in two unrelated families is associated with point mutations in the Wiskott-Aldrich syndrome protein gene.

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22.

Greer WL et. al. (1996) Identification of WASP mutations, mutation hotspots and genotype-phenotype disparities in 24 patients with the Wiskott-Aldrich syndrome.

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23.

Parolini O et. al. (1998) X-linked Wiskott-Aldrich syndrome in a girl.

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24.

Puck JM et. al. (1998) X inactivation in females with X-linked disease.

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25.

Ariga T et. al. (1998) A case of Wiskott-Aldrich syndrome with dual mutations in exon 10 of the WASP gene: an additional de novo one-base insertion, which restores frame shift due to an inherent one-base deletion, detected in the major population of the patient's peripheral blood lymphocytes.

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26.

Snapper SB et. al. (1998) Wiskott-Aldrich syndrome protein-deficient mice reveal a role for WASP in T but not B cell activation.

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27.

Snapper SB et. al. (1999) The Wiskott-Aldrich syndrome protein (WASP): roles in signaling and cytoskeletal organization.

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28.

Waisfisz Q et. al. (1999) Spontaneous functional correction of homozygous fanconi anaemia alleles reveals novel mechanistic basis for reverse mosaicism.

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29.

Lemahieu V et. al. (1999) Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and clinical phenotypes.

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30.

Thompson LJ et. al. () Unique and recurrent WAS gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia.

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31.

Kim AS et. al. (2000) Autoinhibition and activation mechanisms of the Wiskott-Aldrich syndrome protein.

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32.

Marchand JB et. al. (2001) Interaction of WASP/Scar proteins with actin and vertebrate Arp2/3 complex.

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33.

Ho LL et. al. (2001) Missense C168T in the Wiskott--Aldrich Syndrome protein gene is a common mutation in X-linked thrombocytopenia.

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34.

Devriendt K et. al. (2001) Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia.

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35.

Fillat C et. al. (2001) Identification of WASP mutations in 14 Spanish families with Wiskott-Aldrich syndrome.

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36.

Wada T et. al. (2001) Somatic mosaicism in Wiskott--Aldrich syndrome suggests in vivo reversion by a DNA slippage mechanism.

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37.

Notarangelo LD et. al. (2002) Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia.

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38.

Scott MP et. al. (2002) Identification of novel SH3 domain ligands for the Src family kinase Hck. Wiskott-Aldrich syndrome protein (WASP), WASP-interacting protein (WIP), and ELMO1.

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39.

Lutskiy MI et. al. (2002) An Alu-mediated deletion at Xp11.23 leading to Wiskott-Aldrich syndrome.

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40.

Orange JS et. al. (2002) Wiskott-Aldrich syndrome protein is required for NK cell cytotoxicity and colocalizes with actin to NK cell-activating immunologic synapses.

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41.

Inoue H et. al. (2002) X-linked thrombocytopenia in a girl.

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42.

Lutskiy MI et. al. (2002) Wiskott-Aldrich syndrome in a female.

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43.

Volkman BF et. al. (2002) Structure of the N-WASP EVH1 domain-WIP complex: insight into the molecular basis of Wiskott-Aldrich Syndrome.

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44.

Sasahara Y et. al. (2002) Mechanism of recruitment of WASP to the immunological synapse and of its activation following TCR ligation.

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45.

Wada T et. al. (2003) Second-site mutation in the Wiskott-Aldrich syndrome (WAS) protein gene causes somatic mosaicism in two WAS siblings.

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46.

Imai K et. al. (2004) Clinical course of patients with WASP gene mutations.

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47.

ALDRICH RA et. al. (1954) Pedigree demonstrating a sex-linked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea.

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48.

Andreu N et. al. (2003) Identification and characterization of a novel splice-site mutation in a patient with Wiskott-Aldrich syndrome.

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49.

Wada T et. al. (2004) Multiple patients with revertant mosaicism in a single Wiskott-Aldrich syndrome family.

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50.

Du W et. al. (2006) A second-site mutation in the initiation codon of WAS (WASP) results in expansion of subsets of lymphocytes in an Wiskott-Aldrich syndrome patient.

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51.

Ancliff PJ et. al. (2006) Two novel activating mutations in the Wiskott-Aldrich syndrome protein result in congenital neutropenia.

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52.

Binder V et. al. (2006) The genotype of the original Wiskott phenotype.

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53.

Humblet-Baron S et. al. (2007) Wiskott-Aldrich syndrome protein is required for regulatory T cell homeostasis.

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54.

Dobbs AK et. al. (2007) A possible bichromatid mutation in a male gamete giving rise to a female mosaic for two different mutations in the X-linked gene WAS.

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55.

Marangoni F et. al. (2007) WASP regulates suppressor activity of human and murine CD4(+)CD25(+)FOXP3(+) natural regulatory T cells.

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56.

Maillard MH et. al. (2007) The Wiskott-Aldrich syndrome protein is required for the function of CD4(+)CD25(+)Foxp3(+) regulatory T cells.

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57.

Cotta-de-Almeida V et. al. (2007) Wiskott Aldrich syndrome protein (WASP) and N-WASP are critical for T cell development.

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58.

Boztug K et. al. (2008) Multiple independent second-site mutations in two siblings with somatic mosaicism for Wiskott-Aldrich syndrome.

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59.

Cheng HC et. al. (2008) Structural mechanism of WASP activation by the enterohaemorrhagic E. coli effector EspF(U).

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60.

Beel K et. al. (2009) A large kindred with X-linked neutropenia with an I294T mutation of the Wiskott-Aldrich syndrome gene.

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61.

Westerberg LS et. al. (2010) Activating WASP mutations associated with X-linked neutropenia result in enhanced actin polymerization, altered cytoskeletal responses, and genomic instability in lymphocytes.

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Update: Sept. 26, 2018