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 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
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.

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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3.

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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4.

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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5.

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

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6.

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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7.

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

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8.

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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9.

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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10.

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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11.

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

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12.

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

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13.

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

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14.

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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15.

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

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16.

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

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17.

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

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18.

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

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19.

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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20.

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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21.

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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22.

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

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23.

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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24.

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

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25.

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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26.

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

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27.

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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28.

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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29.

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

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30.

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

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31.

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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32.

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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33.

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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34.

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

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35.

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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36.

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

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37.

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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38.

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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39.

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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40.

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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41.

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

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42.

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

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43.

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

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44.

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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45.

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

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46.

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

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47.

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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48.

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

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49.

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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50.

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

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51.

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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52.

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

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53.

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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54.

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

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55.

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

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56.

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

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57.

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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58.

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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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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62.

NCBI article

NCBI 7454 [^]
63.

OMIM.ORG article

Omim 300392 [^]
64.

Orphanet article

Orphanet ID 120490 [^]
65.

Wikipedia article

Wikipedia EN (Wiskott–Aldrich_syndrome_protein) [^]
Update: April 29, 2019