Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Wiskott-Aldrich-Syndrom-Gen

Das WAS-Gen kodiert ein Protein, welches für die Signaltransduktion zum Zytoskelett verantwortlich ist. Mutationen führen zu x-chromosomalem Wiskott-Aldrich-Syndrom.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Wiskott-Aldrich-Syndrom
WAS

Referenzen:

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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