Leu518Pro mutation of the beta ig-h3 gene causes lattice corneal dystrophy type I.
OBJECTIVE
To describe a Japanese family with lattice corneal dystrophy type I, which segregates with a novel mutation, Leu518Pro of the beta ig-h3 gene.


METHODS
DNA was extracted from leukocytes in four members (three affected and one unaffected) of a Japanese family with lattice corneal dystrophy type I. Exon 12 of the beta ig-h3 gene was amplified and analyzed with a molecular biologic method. Clinical data were also collected.


RESULTS
Three generations of this family have been positively diagnosed with lattice corneal dystrophy, indicating autosomal dominant inheritance. We found a heterozygous point mutation that segregates with the disease phenotype. It was a single base-pair transition (CTG to CCG, Leu to Pro).


CONCLUSIONS
Although it is extremely rare compared with the Arg124Cys mutation of the beta ig-h3 gene, Leu518Pro mutation of the beta ig-h3 also causes lattice corneal dystrophy type I.
Endo
S
S
Department of Ophthalmology, Ishida Eye Clinic, Joetsu, Niigata, Japan. isidaeye@white.plala.or.jp
Nguyen
T H
TH
Fujiki
K
K
Hotta
Y
Y
Nakayasu
K
K
Yamaguchi
T
T
Ishida
N
N
Kanai
A
A
D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D003315:Cornea / Q000473:pathology; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D004247:DNA / Q000032:analysis; D005091:Exons / Q000235:genetics; D016326:Extracellular Matrix Proteins; D005260:Female; D006801:Humans; D015948:Keratoplasty, Penetrating; D007930:Leucine / Q000235:genetics; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009363:Neoplasm Proteins / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation; D011392:Proline / Q000235:genetics; D016212:Transforming Growth Factor beta / Q000235:genetics*; D000099222:betaIG-H3 Protein
D004247:DNA; D016326:Extracellular Matrix Proteins; D007930:Leucine; D009363:Neoplasm Proteins; D011392:Proline; D016212:Transforming Growth Factor beta; D000099222:betaIG-H3 Protein