Novel CHST6 nonsense and missense mutations responsible for macular corneal dystrophy.
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.
El-Ashry
Mohamed F
MF
Department of Molecular Genetics, Institute of Ophthalmology, London, United Kingdom. m_el_ashry@hotmail.com
Abd El-Aziz
Mai M
MM
Shalaby
Osama
O
Wilkins
Simon
S
Poopalasundaram
Subathra
S
Cheetham
Michael
M
Tuft
Stephen J
SJ
Hardcastle
Alison J
AJ
Bhattacharya
Shomi S
SS
Ebenezer
Neil D
ND
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
D018389:Codon, Nonsense; D007632:Keratan Sulfate; D015238:Sulfotransferases; D000097811:Carbohydrate Sulfotransferases