title: A novel TACSTD2 gene mutation in a Turkish family with a gelatinous drop-like corneal dystrophy.
abstract: OBJECTIVE
  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.affiliation: Institute of Medical Biochemistry, Zentrum für Molekularbiologie der Entzündung (ZMBE), Münster, Germany. markoff@uni-muenster.de <markoff@uni-muenster.de>
authors.forename: Arseni
authors.initials: A
authors.lastname: Markoff
authors.forename: Nadia
authors.initials: N
authors.lastname: Bogdanova
authors.forename: Constantin E
authors.initials: CE
authors.lastname: Uhlig
authors.forename: Markus
authors.initials: M
authors.lastname: Groppe
authors.forename: Jurgen
authors.initials: J
authors.lastname: Horst
authors.forename: Ingo
authors.initials: I
authors.lastname: Kennerknecht
mesh_terms: D000293:Adolescent; D000951:Antigens, Neoplasm / Q000235:genetics*; D001483:Base Sequence; D015815:Cell Adhesion Molecules / Q000235:genetics*; D002648:Child; D003315:Cornea / Q000473:pathology; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics* / Q000473:pathology*; D005260:Female; D006579:Heterozygote; D006801:Humans; D009154:Mutation; D010375:Pedigree; D014421:Turkey
chemical_list: D000951:Antigens, Neoplasm; D015815:Cell Adhesion Molecules; C499380:TACSTD2 protein, human