Purpose
To report a novel mutation in the keratin 12 gene (KRT12) found in a Japanese family in association with Meesmann corneal dystrophy (MECD).
Methods
After informed consent was obtained, genomic DNA was extracted from the leukocytes of the peripheral blood of the proband,
her affected father, normal mother, and 50 normal unrelated volunteers. Exons 1–8 of the KRT12 gene were amplified by polymerase chain reaction and directly sequenced.
Results
A novel heterozygous T to G transversion at the second nucleotide position of codon 433 (CTG > CGG), resulting in the replacement
of leucine by arginine at codon 433 of the KRT12 gene (L433R), was detected in the proband and her affected father but not in her normal mother or the 50 controls.
Conclusions
The novel L433R mutation of the KRT12 gene found in two members of this Japanese family caused MECD.
Key Words keratin 12 -
KRT12 gene - Meesmann corneal dystrophy - mutation