title: A novel mutation in the M1S1 gene responsible for gelatinous droplike corneal dystrophy.
abstract: OBJECTIVE
  To identify the genetic defect in the M1S1 gene causing gelatinous droplike corneal dystrophy (GDLD) in an Estonian family.
  
  
  METHODS
  DNA was extracted from members of a GDLD-affected family and control persons. Polymerase chain reaction followed by direct sequencing was used to detect mutations in the M1S1 gene. Sequencing results were confirmed with restriction analysis.
  
  
  RESULTS
  Sequencing of the M1S1 gene revealed a novel mutation and a common polymorphism. All patients with GDLD were found to be homozygous for the insertion of nucleotide C in position 520 in M1S1. The mutation leads to formation of truncated protein. The mutation was excluded in 103 normal, unaffected individuals. Very close to the location where the mutation was identified in the M1S1 gene, a single-nucleotide polymorphism (518A/C) was found, changing aspartic acid to alanine at codon 173.
  
  
  CONCLUSIONS
  The data indicate that mutation ins520C in the M1S1 gene is the primary cause of GDLD in the family studied.
authors.affiliation: Department of Human Biology and Genetics, Institute of General and Molecular Pathology, University of Tartu, Estonia. gtasa@ut.ee
authors.forename: G
authors.initials: G
authors.lastname: Tasa
authors.forename: J
authors.initials: J
authors.lastname: Kals
authors.forename: K
authors.initials: K
authors.lastname: Muru
authors.forename: E
authors.initials: E
authors.lastname: Juronen
authors.forename: A
authors.initials: A
authors.lastname: Piirsoo
authors.forename: S
authors.initials: S
authors.lastname: Veromann
authors.forename: S
authors.initials: S
authors.lastname: Jänes
authors.forename: A V
authors.initials: AV
authors.lastname: Mikelsaar
authors.forename: A
authors.initials: A
authors.lastname: Lang
mesh_terms: D000951:Antigens, Neoplasm / Q000235:genetics*; D017252:CD3 Complex / Q000235:genetics; D015815:Cell Adhesion Molecules / Q000235:genetics*; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics*; D004252:DNA Mutational Analysis; D000071858:Epithelial Cell Adhesion Molecule; D004957:Estonia; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic
chemical_list: D000951:Antigens, Neoplasm; D017252:CD3 Complex; D015815:Cell Adhesion Molecules; D000071858:Epithelial Cell Adhesion Molecule