Two mutations in the transforming growth factor beta-induced gene associated with familial Lattice corneal dystrophy
Journal Title: International Journal of Ophthalmology - Year 2017, Vol 10, Issue 3
Abstract
"AIM: To report a phenotypic variant pedigree of lattice corneal dystrophy (LCD) associated with two mutations, R124C and A546D, in the transforming growth factor beta-induced gene (TGFBI). METHODS: A detailed ocular examination was taken for all participants of a LCD family. Peripheral blood leukocytes from each participant were extracted to obtain the DNA. Polymerase chain reaction (PCR) of all seventeen exons of TGFBI gene was performed. The products were sequenced and analyzed. Histological examination was carried out after a penetrating keratoplasty from the right eye of proband. RESULTS: Genetic analysis showed that the proband and all 6 affected individuals harbored both a heterozygous CGC to TGC mutation at codon 124 and a heterozygous GCC to GAC mutation at codon 546 of TGFBI. None of the 100 control subjects and unaffected family members was positive for these two mutations. Ocular examination displayed multiple refractile lattice-like opacities in anterior stroma of the central cornea and small granular deposits in the peripheral cornea. The deposits were stained positively with Congo red indicating be amyloid in nature and situated mainly in the anterior and middle stroma. CONCLUSION: We observed a novel LCD family which carried two pathogenic mutations (R124C and A546D) in the TGFBI gene. The phenotypic features were apparently different from those associated with corresponding single mutations. The result reveals that although the definite mutation is the most important genetic cause of the disease, some different modifier alleles may influence the phenotype."
Authors and Affiliations
Qi Hu
Keywords
Related Articles
- EP ID EP610048
- DOI 10.18240/ijo.2017.03.03
- Views 55
- Downloads 0
Neurofibromatosis type 2 gene mutation and progesterone receptor messenger RNA expression in the pathogenesis of sporadic orbitocranial meningioma
"AIM: To investigate neurofibromatosis type 2 (NF2) gene mutation at mRNA levels in sporadic orbitocranial meningioma and its association with progesterone receptor (PR) mRNA expression. METHODS: This was a case-control...
Reduction in interhemispheric functional connectivity in the dorsal visual pathway in unilateral acute open globe injury patients: a resting-state fMRI study
This study investigated the changes in interhemispheric functional connectivity (FC) of the whole brain in open globe injury (OGI) patients, using voxel-mirrored homotopic connectivity (VMHC), and their relationships wit...
Etiology and failure analysis of anterior lamellar keratoplasty
"AIM: To analyze indications and reasons for failure of anterior lamellar keratoplasty (ALK). METHODS: The clinical records were retrospectively reviewed. Main outcome measures included indications for ALK and reasons fo...
Scutellaria barbata attenuates diabetic retinopathy by preventing retinal inflammation and the decreased expression of tight junction protein
"AIM: To observe the attenuation of ethanol extract of Herba Scutellaria barbata (SE) against diabetic retinopathy (DR) and its engaged mechanism. METHODS: C57BL/6J mice were intraperitoneally injected with streptozotoci...
Concurrent optic disc pit and retinal cavernous hemangioma
Letter to the editor