Brief report
Lattice corneal dystrophy type 1 in a Canadian kindred is associated with the Arg124 → Cys mutation in the kerato-epithelin gene*

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Purpose

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

A C → 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.

Conclusion

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.

References (5)

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Cited by (38)

  • A new mutation (Leu569Arg) within exon 13 of the TGFBI (BIGH3) gene causes lattice corneal dystrophy type I

    2003, American Journal of Ophthalmology
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    This is the first report of disease linked to changes in exon 13 of the TGFBI gene and only the third genetic mutation reported in association with classic type I LCD. Previous investigations have so consistently linked type I LCD to the Arg124Cys mutation of TGFBI that the two have become almost synonymous.3–7 Leu518Pro was reported in one Japanese family as an alternative cause of type I disease; however comparison of the clinical data suggests it to be associated with a somewhat milder phenotype.

  • Characteristics of the human ocular surface epithelium

    2001, Progress in Retinal and Eye Research
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Supported by a grant from the Medical Research Council of Canada, Ottawa, Ontario, Canada (P.E.N.).

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