title: Novel CHST6 nonsense and missense mutations responsible for macular corneal dystrophy.
abstract: OBJECTIVE
  To identify the underlying mutations in two unrelated British families with macular corneal dystrophy (MCD) by screening the carbohydrate sulfotransferase (CHST6) gene.
  
  
  METHODS
  Case reports and results of DNA analysis.
  
  
  METHODS
  Two subjects from two British families with MCD were studied. The genetic status of CHST6 was determined for all members of these MCD families. In addition, sulfated keratan sulfate (KS) assay from the probands was also undertaken. CHST6 gene was amplified by polymerase chain reaction (PCR). The PCR products were analyzed by sequencing and restriction digestion. Enzyme-linked immunosorbent assay (ELISA) was performed to assess KS presence in serum.
  
  
  RESULTS
  Four compound heterozygous mutations were identified, three of which are novel. The ELISA showed that the probands were of MCD type I.
  
  
  CONCLUSIONS
  These novel mutations are expected to result in loss of CHST6 function, which would account for the MCD phenotype.
authors.affiliation: Department of Molecular Genetics, Institute of Ophthalmology, London, United Kingdom. m_el_ashry@hotmail.com
authors.forename: Mohamed F
authors.initials: MF
authors.lastname: El-Ashry
authors.forename: Mai M
authors.initials: MM
authors.lastname: Abd El-Aziz
authors.forename: Osama
authors.initials: O
authors.lastname: Shalaby
authors.forename: Simon
authors.initials: S
authors.lastname: Wilkins
authors.forename: Subathra
authors.initials: S
authors.lastname: Poopalasundaram
authors.forename: Michael
authors.initials: M
authors.lastname: Cheetham
authors.forename: Stephen J
authors.initials: SJ
authors.lastname: Tuft
authors.forename: Alison J
authors.initials: AJ
authors.lastname: Hardcastle
authors.forename: Shomi S
authors.initials: SS
authors.lastname: Bhattacharya
authors.forename: Neil D
authors.initials: ND
authors.lastname: Ebenezer
mesh_terms: D000328:Adult; D018389:Codon, Nonsense; D003317:Corneal Dystrophies, Hereditary / Q000097:blood / Q000235:genetics*; D004252:DNA Mutational Analysis; D004797:Enzyme-Linked Immunosorbent Assay; D006801:Humans; D007632:Keratan Sulfate / Q000097:blood; D020125:Mutation, Missense; D010641:Phenotype; D016133:Polymerase Chain Reaction; D015238:Sulfotransferases / Q000235:genetics*; D000097811:Carbohydrate Sulfotransferases
chemical_list: D018389:Codon, Nonsense; D007632:Keratan Sulfate; D015238:Sulfotransferases; D000097811:Carbohydrate Sulfotransferases