Study of VSX1 mutations in patients with keratoconus in southwest Iran using PCR-single-strand conformation polymorphism/heteroduplex analysis and sequencing method.

Investigation of LRTOMT gene (locus DFNB63) mutations in Iranian patients with autosomal recessive non-syndromic hearing loss

Hearing loss (HL) is the most frequent sensory defect affecting 1 in 1000 neonates. This can occur due to genetic or environmental causes or both. The genetic causes are very heterogenous and over 100 loci have been identified to cause autosomal recessive non - syndromic hearing loss (ARNSHL). The aim of this study was to determine the contribution of the LRTOMT gene mutations in causing ARNSHL...

VSX1 and SOD1 Mutation Screening in Patients with Keratoconus in the South of Iran

PURPOSE To investigate mutations of visual system homeobox 1 (VSX1) and superoxide dismutase 1 (SOD1) in 20 patients with keratoconus in the south of Iran. METHODS Twenty patients with keratoconus who had a positive familial history were enrolled in this study and gave informed consent for DNA analysis. Genomic DNA was extracted from peripheral blood lymphocytes. Polymerase chain reaction (PC...

Studying VSX1 Gene Mutations in Patients with Keratoconus of Chaharmahal and Bakhtiari Province, Iran

Background & Aims: Keratoconus (KC) is an eye disorder in which the cornea is swollen, thinned and deformed. Despite extensive studies, the pathophysiological processes and genetic etiology of KC is unknown. The disease incidence is approximately 1 in 2000 and is the most common cause of corneal transplantation in the US. Many genes are involved in the disease, but evidence suggests a major rol...

Carrier Determination in a Hemophilia B Family Using Single Strand Conformation Polymorphism (SSCP) and Sequencing

Analysis of the VSX1 gene in sporadic keratoconus patients from China

BACKGROUND Keratoconus normally presents as a sporadic disease. Although different studies have found sequence variants of the visual system homeobox 1 (VSX1) gene associated with keratoconus in humans, no research has detected such variants in sporadic keratoconus patients from China. To investigate the possibility of VSX1 being a candidate susceptibility gene for Chinese patients with sporadi...