A novel TACSTD2 gene mutation in a Turkish family with agelatinous drop-like corneal dystrophy

[摘要] Purpose: To identify the molecular defect causing gelatinousdrop-like corneal dystrophy in a Turkish family and assign affected andcarriership status.Methods: Visual activity of affected family members was measuredusing Snellen optotypes. To identify the molecular defect, mutationanalysis of the TACSTD2 (M1S1) gene was performed.Results: We report on a new TACSTD2 mutation, c.653delA, in aTurkish family. The identified molecular defect cosegregates with thedisease among affected members of the family and is not found in 100unaffected individuals of various ethnic origin.Conclusions: A few TACSTD2 gene mutations in the homozygous orcompound heterozygous state have been described as causative for thisabnormality, mainly in several Japanese families. The newly identifiedmutation is predicted to generate a shortened protein product, therebycompletely altering the COOH-terminal region and deleting thetransmembrane domain, required for anchoring at cell membranes and thephosphatidylinosyol2-binding site.

[学科分类] 生物化学/生物物理