Null Mutations in LTBP2 Cause Primary Congenital Glaucoma
نویسندگان
چکیده
منابع مشابه
Novel Gene Mutations Causing Primary Congenital Glaucoma
P r i m a r y c o n g e n i t a l g l a u c o m a ( P C G ) i s characterized by an anatomical defect in the trabecular meshwork (trabeculodysgenesis) and onset in the neonatal or infantile period, generally before the age of 3 years. The developmental anomaly in the anterior chamber angle manifests by increased intraocular pressure, corneal edema, excessive tearing, photophobia, enlargement of...
متن کاملScreening of the LTBP2 gene in a north Indian population with primary congenital glaucoma
PURPOSE Primary congenital glaucoma (PCG), a severe form of glaucoma that presents early in life, is an autosomal recessive eye disorder that results from defects in anterior eye segment. Null mutations in LTBP2 were reported in patients with PCG in Pakistani and Iranian families. This study was aimed to identify the mutation profile of the LTBP2 gene in north Indian patients with PCG. METHOD...
متن کاملScreening of the LTBP2 gene in 214 Chinese sporadic CYP1B1-negative patients with primary congenital glaucoma
PURPOSE To identify deleterious mutations in the latent transforming growth factor-β-binding protein 2 (LTBP2) gene in sporadic patients with primary congenital glaucoma (PCG) from a Han Chinese population, which had been excluded for mutations in the CYP1B1 gene. METHODS In this retrospective case-control study, 36 coding exons and adjacent exon-intron boundaries of LTBP2 were amplified with...
متن کاملScreening of CYP1B1 and LTBP2 genes in Saudi families with primary congenital glaucoma: Genotype-phenotype correlation
PURPOSE Primary congenital glaucoma (PCG) is a severe form of glaucoma that presents early in life. PCG is a clinical and genetic entity that is distinct from juvenile forms of glaucoma. Inheritance is usually autosomal recessive and therefore the disease might be more common in societies where consanguinity is high. We studied the prevalence of cytochrome P450, family 1, subfamily B, polypepti...
متن کاملLoss of function mutations in the gene encoding latent transforming growth factor beta binding protein 2, LTBP2, cause primary congenital glaucoma.
Glaucoma is a heterogeneous group of optic neuropathies that manifests by optic nerve head cupping or degeneration of the optic nerve, resulting in a specific pattern of visual field loss. Glaucoma leads to blindness if left untreated, and is considered the second leading cause of blindness worldwide. The subgroup primary congenital glaucoma (PCG) is characterized by an anatomical defect in the...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2009
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2009.03.017