title: A new mutation (A546T) of the betaig-h3 gene responsible for a French lattice corneal dystrophy type IIIA.
abstract: OBJECTIVE
  To characterize the betaig-h3 gene defect in a French family affected with lattice corneal dystrophy type IIIA (LCDIIIA).
  
  
  METHODS
  Histologic examination was performed from corneal buttons of two patients. Genomic DNA was extracted from leukocytes, and exons of the betaig-h3 gene were amplified by polymerase chain reaction to be directly sequenced.
  
  
  RESULTS
  Numerous deposits were evident in the stroma and beneath the Bowman membrane, which had all the features of amyloid deposits. Analysis of exon 12 revealed a heterozygous G to A transition on codon 546.
  
  
  CONCLUSIONS
  In contrast to Japanese patients, these French patients affected with LCDIIIA carry a distinct mutation of the betaig-h3 gene (A546T instead of P501T). Therefore, it is unclear whether different mutations could result in the same dystrophy or whether we are dealing with clinical heterogeneity of LCDIIIA.
authors.affiliation: Laboratoire de Biochimie et Génétique Moléculaire, the Department of Ophthalmology, Hôtel-Dieu, Paris, France.
authors.forename: P
authors.initials: P
authors.lastname: Dighiero
authors.forename: S
authors.initials: S
authors.lastname: Drunat
authors.forename: P
authors.initials: P
authors.lastname: Ellies
authors.forename: F
authors.initials: F
authors.lastname: D'Hermies
authors.forename: M
authors.initials: M
authors.lastname: Savoldelli
authors.forename: J M
authors.initials: JM
authors.lastname: Legeais
authors.forename: G
authors.initials: G
authors.lastname: Renard
authors.forename: M
authors.initials: M
authors.lastname: Delpech
authors.forename: G
authors.initials: G
authors.lastname: Grateau
authors.forename: S
authors.initials: S
authors.lastname: Valleix
mesh_terms: D000328:Adult; D000686:Amyloidosis / Q000473:pathology*; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics* / Q000473:pathology; D003319:Corneal Stroma / Q000473:pathology; D004247:DNA / Q000032:analysis; D005091:Exons; D016326:Extracellular Matrix Proteins; D005260:Female; D005602:France; D006801:Humans; D008297:Male; D008875:Middle Aged; D009363:Neoplasm Proteins / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D016212:Transforming Growth Factor beta / Q000235:genetics*; D000099222:betaIG-H3 Protein
chemical_list: D004247:DNA; D016326:Extracellular Matrix Proteins; D009363:Neoplasm Proteins; D016212:Transforming Growth Factor beta; D000099222:betaIG-H3 Protein