title: A novel mutation (p.Glu1389AspfsX16) of the phosphoinositide kinase, FYVE finger containing gene found in a Japanese patient with fleck corneal dystrophy.
abstract: OBJECTIVE
  The phosphoinositide kinase, FYVE finger containing (PIKFYVE) gene has been identified as a gene responsible for fleck corneal dystrophy (FCD). The purpose of this study is to report a novel mutation of the PIKFYVE gene in a Japanese patient with fleck corneal dystrophy.
  
  
  METHODS
  Slit-lamp microscopy, corneal topography, and optical coherence tomography were performed for the clinical examination of the patient's eye. For genetic analysis, peripheral blood was obtained from the patient and her sister. DNA was extracted from the blood and subjected to mutation analysis by sequencing of the PIKFYVE gene. The sequencing results were validated with a PCR-fragment length polymorphism analysis.
  
  
  RESULTS
  A 63-year-old woman presented at our clinic with complaints of decreased vision and metamorphopsia in her right eye occurring 1 month before presentation. Both eyes exhibited small, dot-like, white flecks scattered throughout all layers of the corneal stroma, which corresponds to the typical FCD phenotype. The opacities were relatively dominant at the peripheral region of the cornea, yet were found throughout the entire cornea. Sequence analysis revealed that the patient has a heterozygous c.4166_4169delAAGT mutation located at exon 24 of the PIKFYVE gene that may cause p.Glu1389AspfsX16 flame-shift mutation, which has never before been reported for FCD.
  
  
  CONCLUSIONS
  To the best of our knowledge, this is the first study to show that a novel mutation (p.Glu1389AspfsX16) causing the truncation of the PIKFYVE protein causes fleck corneal dystrophy in the Japanese population.
authors.affiliation: Department of Ophthalmology, Kyoto Prefectural University of Medicine, Kyoto, Japan. bluenova@koto.kpu-m.ac.jp
authors.forename: Satoshi
authors.initials: S
authors.lastname: Kawasaki
authors.forename: Kenta
authors.initials: K
authors.lastname: Yamasaki
authors.forename: Hiroko
authors.initials: H
authors.lastname: Nakagawa
authors.forename: Katsuhiko
authors.initials: K
authors.lastname: Shinomiya
authors.forename: Mina
authors.initials: M
authors.lastname: Nakatsukasa
authors.forename: Yoshihide
authors.initials: Y
authors.lastname: Nakai
authors.forename: Shigeru
authors.initials: S
authors.lastname: Kinoshita
mesh_terms: D044466:Asian People; D001483:Base Sequence; D003315:Cornea / Q000378:metabolism* / Q000473:pathology; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics* / Q000473:pathology; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D006801:Humans; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D010641:Phenotype; D019869:Phosphatidylinositol 3-Kinases / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D019869:Phosphatidylinositol 3-Kinases; C492139:PIKFYVE protein, human