Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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

Related Diseases:

Open angle glaucoma 3D
LTBP2

References:

1.

Morén A et. al. (1994) Identification and characterization of LTBP-2, a novel latent transforming growth factor-beta-binding protein.

[^]
2.

Shipley JM et. al. (2000) Developmental expression of latent transforming growth factor beta binding protein 2 and its requirement early in mouse development.

[^]
3.

Oklü R et. al. (2000) The latent transforming growth factor beta binding protein (LTBP) family.

[^]
4.

Ali M et. al. (2009) Null mutations in LTBP2 cause primary congenital glaucoma.

[^]
5.

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.

[^]
6.

Désir J et. al. (2010) LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma.

[^]
7.

Kumar A et. al. (2010) A homozygous mutation in LTBP2 causes isolated microspherophakia.

[^]
8.

Azmanov DN et. al. (2011) LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population.

[^]
9.

Khan AO et. al. (2011) Congenital megalocornea with zonular weakness and childhood lens-related secondary glaucoma - a distinct phenotype caused by recessive LTBP2 mutations.

[^]
10.

Haji-Seyed-Javadi R et. al. (2012) LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix.

[^]
Update: Sept. 26, 2018