Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Glypican-3

Das GPC3-Gen kodiert Heparansulfat-Proteoglycan welches sich auf der Außenseite der Zellmembran befindet und bei verschiedenen Zellregulationsprozessen wie Zellteiung, Wachstum und Apoptose beteiligt ist. Keimbahnmutationen insbesondere Deletionen des Gens führen zu Simpson-Golabi-Behmel-Syndrom. Somatische Mutationen werden in Wilms-Tumorzellen gesehen.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Simpson-Golabi-Behmel-Syndrom 1
GPC3
Somatisches Nephroblastom
GPC3
WT1

Referenzen:

1.

Sood R et al. (2006) Gene expression patterns in human placenta.

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2.

Filmus J et. al. (1988) Isolation of a cDNA corresponding to a developmentally regulated transcript in rat intestine.

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3.

Filmus J et. al. (1995) Identification of a new membrane-bound heparan sulphate proteoglycan.

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4.

Pilia G et. al. (1996) Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome.

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5.

Hughes-Benzie RM et. al. (1996) Simpson-Golabi-Behmel syndrome: genotype/phenotype analysis of 18 affected males from 7 unrelated families.

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6.

Shen T et. al. (1997) Mapping of the Simpson-Golabi-Behmel overgrowth syndrome gene (GPC3) to chromosome X in human and rat by fluorescence in situ hybridization.

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7.

Lindsay S et. al. (1997) Large scale deletions in the GPC3 gene may account for a minority of cases of Simpson-Golabi-Behmel syndrome.

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8.

Xuan JY et. al. (1999) A small interstitial deletion in the GPC3 gene causes Simpson-Golabi-Behmel syndrome in a Dutch-Canadian family.

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9.

Veugelers M et. al. (2000) Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: identification of loss-of-function mutations in the GPC3 gene.

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10.

White GR et. al. (2002) Somatic glypican 3 (GPC3) mutations in Wilms' tumour.

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11.

Rodríguez-Criado G et. al. (2005) Clinical and molecular studies on two further families with Simpson-Golabi-Behmel syndrome.

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12.

Sakazume S et. al. (2007) GPC3 mutations in seven patients with Simpson-Golabi-Behmel syndrome.

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13.

Romanelli V et. al. (2007) Germinal mosaicism in Simpson-Golabi-Behmel syndrome.

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14.

Pénisson-Besnier I et. al. (2008) Carotid artery dissection in an adult with the Simpson-Golabi-Behmel syndrome.

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15.

Capurro MI et. al. (2008) Glypican-3 inhibits Hedgehog signaling during development by competing with patched for Hedgehog binding.

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16.

Filmus J et. al. (2008) Glypicans.

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17.

Shi W et. al. (2009) A patient with the Simpson-Golabi-Behmel syndrome displays a loss-of-function point mutation in GPC3 that inhibits the attachment of this proteoglycan to the cell surface.

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18.

Maurel M et. al. (2013) MicroRNA-1291-mediated silencing of IRE1α enhances Glypican-3 expression.

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Update: 26. September 2018