Lattice corneal dystrophy type 1 in a Canadian kindred is associated with the Arg124 --> Cys mutation in the kerato-epithelin gene. sgupta@ogh.on.ca.
OBJECTIVE
To identify the mutation responsible for lattice corneal dystrophy type 1 in an extended Canadian kindred.


METHODS
A search for a mutation in the candidate gene, kerato-epithelin, was carried out by single-strand conformation polymorphism and sequencing analyses.


RESULTS
AC --> T mutation at position 417 was detected in exon 4 of the kerato-epithelin gene, which is expected to cause an Arg124 --> Cys change. This is the same nucleotide change described previously in two Swiss families with lattice corneal dystrophy type 1.


CONCLUSIONS
Although the possibility that the three families (two previously described Swiss families and this Canadian kindred) are related has not been excluded, it appears that the unique phenotype of lattice corneal dystrophy type 1 is caused by this particular amino acid change.
Gupta
S K
SK
Department of Pathology, Dalhousie University, Ottawa, Ontario, Canada. sgupta@ogh.on.ca
Hodge
W G
WG
Damji
K F
KF
Guernsey
D L
DL
Neumann
P E
PE
D001120:Arginine / Q000235:genetics; D002170:Canada; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics*; D003545:Cysteine / Q000235:genetics; D004247:DNA / Q000032:analysis; D017931:DNA Primers / Q000737:chemistry; D016326:Extracellular Matrix Proteins; D005260:Female; D006801:Humans; D008297:Male; D009363:Neoplasm Proteins / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D016212:Transforming Growth Factor beta / Q000235:genetics*; D000099222:betaIG-H3 Protein
D001120:Arginine; D003545:Cysteine; D004247:DNA; D017931:DNA Primers; D016326:Extracellular Matrix Proteins; D009363:Neoplasm Proteins; D016212:Transforming Growth Factor beta; D000099222:betaIG-H3 Protein