title: A Novel KERA Mutation in a Case of Autosomal Recessive Cornea Plana With Primary Angle-Closure Glaucoma.
abstract: OBJECTIVE
  Keratocan is a cornea-specific keratan sulfate proteoglycan found predominantly in the adult vertebrate eye. In human beings, mutations in keratocan (KERA) are associated with autosomal recessive cornea plana (CNA2), which is characterized by a flattened forward convex curvature of the cornea. Here, we report a novel mutation in a case of autosomal recessive bilateral cornea plana presenting with primary angle-closure glaucoma in a 41-year-old woman from Eastern India.
  
  
  METHODS
  The KERA gene of the patient and her sons was directly sequenced.
  
  
  RESULTS
  Mutational analysis of the KERA revealed 2 novel mutations. The first mutation was a 3 base-pair deletion (c.371_373delTCT), leading to the loss of a highly conserved amino acid (p.Phe125del). The second mutation was a base substitution resulting in a silent mutation (c.69G>A). One of her 2 sons carried the homozygous substitution (c.69G>A), whereas the other son was heterozygous (c.69G>R).
  
  
  CONCLUSIONS
  The mutation that we report here leads to the deletion of a conserved amino acid (p.Phe125del) from the third LRR motif of the keratocan protein, which might lead to an abnormal tertiary structure of the protein, thereby leading to the disease.
authors.affiliation: *School of Biological Sciences, National Institute of Science Education and Research, Institute of Physics Campus †Glaucoma Services, LV Prasad Eye Institute, Bhubaneswar, Odisha, India.
authors.forename: Deepa
authors.initials: D
authors.lastname: Kumari
authors.forename: Ankit
authors.initials: A
authors.lastname: Tiwari
authors.forename: Mahasweta
authors.initials: M
authors.lastname: Choudhury
authors.forename: Abhishek
authors.initials: A
authors.lastname: Kumar
authors.forename: Aparna
authors.initials: A
authors.lastname: Rao
authors.forename: Manjusha
authors.initials: M
authors.lastname: Dixit
mesh_terms: D000208:Acute Disease; D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D003315:Cornea / Q000002:abnormalities*; D003316:Corneal Diseases / Q000235:genetics*; D004252:DNA Mutational Analysis; D015785:Eye Diseases, Hereditary / Q000235:genetics*; D005260:Female; D015812:Glaucoma, Angle-Closure / Q000235:genetics*; D006801:Humans; D007429:Intraocular Pressure; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D011509:Proteoglycans / Q000235:genetics*
chemical_list: C490948:KERA protein, human; D011509:Proteoglycans