Granular corneal dytrophy with homozygou mutation in the kerato-epithelin gene Original Reearch Article

Granular corneal dytrophy with homozygou mutation in the kerato-epithelin gene Original Reearch Article 169-176 Maaki Okada, huji Yamamoto, Hitohi Watanabe, Yohitugu Inoue, Motokazu Tujikawa, Naoyuki Maeda, Yohikazu himomura, Kohji Nihida, higeru Kinohita, Yauo Tano Cloe Cloe preview | Purchae PDF (563 K) | Related article | Related reference work article AbtractAbtract | Figure/TableFigure/Table | ReferenceReference Abtract PURPOE: To report a family with everal member affected with granular corneal dytrophy Groenouw type 1. Three member of the family were affected with a evere placoid type of corneal dytrophy. To determine the relationhip between gene mutation and phenotypic variation of the dieae, we analyzed the kerato-epithelin gene. METHOD: The pedigree included a conanguineou marriage of two affected individual. The three family member affected with a evere form of corneal dytrophy were offpring of thee parent. However, the phenotype of other affected family member wa typical granular corneal dytrophy. We iolated genomic DNA from leukocyte of the family member. Exon of the kerato-epithelin gene were amplified by the polymerae chain reaction and were analyzed uing the ingle-trand conformation polymorphim technique. Mutation were identified by direct equencing method and retriction digetion analyi. REULT: The three everely affected family member exhibited homozygou mutation at codon 555 (arginine to tryptophan) in the kerato-epithelin gene, wherea thoe with typical granular corneal dytrophy had the heterozygou mutation at the ame codon. Unaffected family member did not have the mutation. CONCLUION: We determined that the evere phenotype of granular corneal dytrophy i caued by homozygou mutation in the kerato-epithelin gene. Clinical manifetation of the evere phenotype i a placoid type of corneal dytrophy and early recurrence after urgery. Granular corneal dytrophy appear to be the firt ophthalmic dieae in which homozygoity for a dominant allele ha been genetically identified. Article Outline Patient and method Cae Cae Cae Cae Cae Cae Method Reult Dicuion Acknowledgement Reference