title: Q118X mutation of M1S1 gene caused gelatinous drop-like corneal dystrophy: the P501T of BIGH3 gene found in a family with gelatinous drop-like corneal dystrophy.
abstract: OBJECTIVE
  To analyze BIGH3 and M1S1 genes in two Japanese brothers with gelatinous drop-like corneal dystrophy and five unaffected family members.
  
  
  METHODS
  DNA was extracted, and each part of the two genes was amplified and directly sequenced.
  
  
  RESULTS
  On the BIGH3 gene, a heterozygous P501T mutation was found in the elder brother and three unaffected family members. On the M1S1 gene, both brothers with gelatinous drop-like corneal dystrophy showed a homozygous Q118X mutation, whereas all unaffected members were heterozygous.
  
  
  CONCLUSIONS
  The Q118X mutation of M1S1 gene caused gelatinous drop-like corneal dystrophy. Although the P501T of the BIGH3 gene found in this pedigree was precisely the one reported for lattice corneal dystrophy IIIA, no clinical feature was shown, even in the 85-year-old father. This fact shows that the P501T mutation for LCDIIIA has low penetrance.
authors.affiliation: Department of Ophthalmology, Juntendo University School of Medicine, Tokyo, Japan. nguyenthanhha7@hotmail.com
authors.forename: N T
authors.initials: NT
authors.lastname: Ha
authors.forename: K
authors.initials: K
authors.lastname: Fujiki
authors.forename: Y
authors.initials: Y
authors.lastname: Hotta
authors.forename: K
authors.initials: K
authors.lastname: Nakayasu
authors.forename: A
authors.initials: A
authors.lastname: Kanai
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000951:Antigens, Neoplasm / Q000235:genetics*; D015815:Cell Adhesion Molecules / Q000235:genetics*; D003317:Corneal Dystrophies, Hereditary / Q000208:ethnology / Q000235:genetics*; D004252:DNA Mutational Analysis; D000071858:Epithelial Cell Adhesion Molecule; D016326:Extracellular Matrix Proteins; D005260:Female; D006801:Humans; D007564:Japan / Q000453:epidemiology; D008297:Male; D009154:Mutation; D009363:Neoplasm Proteins / Q000235:genetics*; D010375:Pedigree; D017422:Sequence Analysis, DNA; D016212:Transforming Growth Factor beta; D000099222:betaIG-H3 Protein
chemical_list: D000951:Antigens, Neoplasm; D015815:Cell Adhesion Molecules; D000071858:Epithelial Cell Adhesion Molecule; D016326:Extracellular Matrix Proteins; D009363:Neoplasm Proteins; D016212:Transforming Growth Factor beta; D000099222:betaIG-H3 Protein