Mutations in CHST6 Gene Linked to Macular Corneal Dystrophy in Iran
Author Information
Author(s): Birgani Shiva Akbari, Salehi Zivar, Houshmand Masoud, Mohamadi Mohamad Javad, Promehr Leila Azizade, Mozafarzadeh Zahra
Primary Institution: Guilan University of Medical Science
Hypothesis
To characterize mutations within the carbohydrate sulfotransferase 6 (CHST6) gene in Iranian subjects with macular corneal dystrophy.
Conclusion
CHST6 mutations are responsible for the pathogenesis of macular corneal dystrophy in Iranian patients.
Supporting Evidence
- The study identified 11 different mutations in the CHST6 gene.
- Six of the mutations were novel missense mutations.
- One mutation was a novel nonsense mutation.
- The majority of mutations were located in the binding sites of the protein.
Takeaway
The study found new changes in a gene that causes a type of eye disease in some people from Iran.
Methodology
Genomic DNA was extracted from blood samples of 20 affected patients and 60 healthy volunteers, followed by PCR and sequencing of the CHST6 coding region.
Limitations
Some cases of macular corneal dystrophy could not be explained by mutations in the coding region of CHST6.
Participant Demographics
20 patients from 12 unrelated Iranian families, all older than 25 years.
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