Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Latent-transforming growth factor beta-binding protein 2

The LTBP2 gene encodes a transforming growth factor receptor that is involved in cell adhesion. Mutations cause autosomal recessive hereditary glaucoma 3D.

Genetests:

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

Related Diseases:

Open angle glaucoma 3D
LTBP2

References:

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 external link
12.

OMIM.ORG article

Omim 602091 external link
13.

NCBI article

NCBI 4053 external link
14.

Wikipedia article

Wikipedia EN (LTBP2) external link
Update: Aug. 14, 2020
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