PURPOSE: To identify the molecular defect causing gelatinous drop-like corneal dystrophy in a Turkish family and assign affected and carriership status. METHODS: Visual activity of affected family members was measured using Snellen optotypes. To identify the molecular defect, mutation analysis of the TACSTD2 (M1S1) gene was performed. RESULTS: We report on a new TACSTD2 mutation, c.653delA, in a Turkish family. The identified molecular defect cosegregates with the disease among affected members of the family and is not found in 100 unaffected individuals of various ethnic origin. CONCLUSIONS: A few TACSTD2 gene mutations in the homozygous or compound heterozygous state have been described as causative for this abnormality, mainly in several Japanese families. The newly identified mutation is predicted to generate a shortened protein product, thereby completely altering the COOH-terminal region and deleting the transmembrane domain, required for anchoring at cell membranes and the phosphatidylinosyol2-binding site.
PURPOSE: To identify the molecular defect causing gelatinous drop-like corneal dystrophy in a Turkish family and assign affected and carriership status. METHODS: Visual activity of affected family members was measured using Snellen optotypes. To identify the molecular defect, mutation analysis of the TACSTD2 (M1S1) gene was performed. RESULTS: We report on a new TACSTD2 mutation, c.653delA, in a Turkish family. The identified molecular defect cosegregates with the disease among affected members of the family and is not found in 100 unaffected individuals of various ethnic origin. CONCLUSIONS: A few TACSTD2 gene mutations in the homozygous or compound heterozygous state have been described as causative for this abnormality, mainly in several Japanese families. The newly identified mutation is predicted to generate a shortened protein product, thereby completely altering the COOH-terminal region and deleting the transmembrane domain, required for anchoring at cell membranes and the phosphatidylinosyol2-binding site.
Authors: Jayne S Weiss; H U Møller; Walter Lisch; Shigeru Kinoshita; Anthony J Aldave; Michael W Belin; Tero Kivelä; Massimo Busin; Francis L Munier; Berthold Seitz; John Sutphin; Cecilie Bredrup; Mark J Mannis; Christopher J Rapuano; Gabriel Van Rij; Eung Kweon Kim; Gordon K Klintworth Journal: Cornea Date: 2008-12 Impact factor: 2.651