Latent-transforming growth factor beta Bindungsprotein
Das LTBP2-gen kodiert einen TGF-Rezeptor der für die Zelladhäsion verantwortlich ist. Mutationen sind für das autosomal rezessive Glaukom 3D verantwortlich.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Haji-Seyed-Javadi R et al. (2012) LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix.
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2. |
Khan AO et al. (2011) Congenital megalocornea with zonular weakness and childhood lens-related secondary glaucoma - a distinct phenotype caused by recessive LTBP2 mutations.
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3. |
Azmanov DN et al. (2011) LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population.
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4. |
Kumar A et al. (2010) A homozygous mutation in LTBP2 causes isolated microspherophakia.
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5. |
Désir J et al. (2010) LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma.
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6. |
Narooie-Nejad M et al. (2009) Loss of function mutations in the gene encoding latent transforming growth factor beta binding protein 2, LTBP2, cause primary congenital glaucoma.
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7. |
Ali M et al. (2009) Null mutations in LTBP2 cause primary congenital glaucoma.
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8. |
Oklü R et al. (2000) The latent transforming growth factor beta binding protein (LTBP) family.
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9. |
Shipley JM et al. (2000) Developmental expression of latent transforming growth factor beta binding protein 2 and its requirement early in mouse development.
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10. |
Morén A et al. (1994) Identification and characterization of LTBP-2, a novel latent transforming growth factor-beta-binding protein.
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11. |
Orphanet article
Orphanet ID 189348
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12. |
OMIM.ORG article
Omim 602091
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13. |
NCBI article
NCBI 4053
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Update: 14. August 2020