Mutation analysis of the @entity14416 gene in Vietnamese with granular and Avellino XXXX .

@entity1 @entity14665 @entity14416 @entity3985 @entity23930 @entity70993 @entity13685 @entity14668
PURPOSE: Mutations of the @entity1 @entity14416 gene ( @entity14416 ) were reported to cause granular ( @entity23930 ) and Avellino ( @entity13685 ) @entity3985 in various nationalities. In this study we examined the @entity14416 gene in a Vietnamese population with @entity23930 and @entity13685 . METHODS: Eight unrelated Vietnamese families, including 20 affected and 24 unaffected individuals, were examined; 50 normal Vietnamese individuals were used as controls. Genomic DNA was extracted from peripheral blood leukocytes. The @entity14416 gene was analyzed using the polymerase chain reaction and direct sequencing. The corneal button was studied. RESULTS: Slit-lamp examination revealed typical features of @entity23930 in most cases. A few features of @entity13685 and a @entity1 with an atypical form of @entity23930 were also seen. Histopathological analysis of a @entity23930 cornea showed deposits that stained bright red with Masson trichrome. Sequencing revealed three distinct mutations: @entity14665 in six families, @entity14668 in one family, and @entity70993 in another. CONCLUSIONS: @entity14665 and @entity14668 mutations were co-segregated with the disease phenotype and thus caused @entity23930 and @entity13685 , respectively, in the families studied. The @entity14665 detected in six of the eight families indicates that the @entity23930 phenotype may be the most common in Vietnamese individuals, unlike in other Asians (Japanese and Korean), where @entity13685 is most common (>90%). The @entity70993 mutation may cause an atypical variant of @entity23930 .
