Mutation analysis of the TGFBI gene in Vietnamese with granular and Avellino corneal dystrophy.

Purpose: Mutations of the human transforming growth factor beta-induced gene (TGFBI) were reported to cause granular (GCD) and Avellino (ACD) corneal dystrophy in various nationalities. In this study we examined the TGFBI gene in a Vietnamese population with GCD and ACD.

Methods: Eight unrelated Vietnamese families, including 20 affected and 24 unaffected individuals, were examined; 50 normal Vietnamese individuals were used as controls.

Identification of novel mutations of the CHST6 gene in Vietnamese families affected with macular corneal dystrophy in two generations.

Purpose: To report the clinical and genetic findings of Vietnamese families affected with macular corneal dystrophy (MCD) in 2 generations.

Methods: Two families, including 7 patients and 3 unaffected members, were examined clinically. Blood samples were collected.

Mutation analysis of the carbohydrate sulfotransferase gene in Vietnamese with macular corneal dystrophy.

Purpose: Mutations in a new carbohydrate sulfotransferase gene (CHST6) encoding corneal N-acetylglucosamine-6-sulfotransferase (C-GlcNac-6-ST) have been identified as the cause of macular corneal dystrophy (MCD) in various ethnicities. This study was conducted to examine the CHST6 gene in Vietnamese with MCD.

Methods: Nineteen unrelated families, including 35 patients and 38 unaffected relatives were examined clinically.

A novel mutation of the TGFBI gene found in a Vietnamese family with atypical granular corneal dystrophy.

Background: Mutation of the human transforming growth factor beta-induced (TGFBI) gene causes granular corneal dystrophy (GCD) in various ethnic groups. In this report, we identify the genetic defect on the TGFBI gene in a Vietnamese family with atypical GCD .

Cases: The patient and her relatives were examined clinically.

A novel mutation of M1S1 gene found in a Vietnamese patient with gelatinous droplike corneal dystrophy.

To identify the genetic defect in the M1S1 gene responsible for gelatinous droplike corneal dystrophy (GDLD) in a Vietnamese family.Experimental study. Blood samples were collected from a patient and the unaffected members of a GDLD-affected family.