Iranian Journal of Child Neurology

Vol. 4 No. 2 (2010)

Mutations in Corneal Carbohydrate Sulfotransferase 6 Gene (Chst6) in Iranian Macular Corneal Dystrophy (MCD) Patients: A Report of 7 Patients from Iran

Iranian Journal of Child Neurology, Vol. 4 No. 2 (2010), 6 Mehr 2010 , Page 55-58
https://doi.org/10.22037/ijcn.v4i2.1872

Abstract

Objective

Macular Corneal Dystrophy (MCD) is a rare autosomal recessive disorder affecting the stroma of cornea. Most cases of MCD are caused by mutations in CHST6 gene. The aim of this study was to determine mutations in the carbohydrate sulfotransferase 6 gene (CHST6) through genetic analysis of 7 Iranian patients with MCD.

Materials & Methods

We screened the CHST6 gene to determine the range of pathogenic mutations. Genomic DNA was extracted from peripheral blood leukocytes. The coding regions of the CHST6 gene were amplified using three pairs of primers, and directly sequenced in the final step.

Results

Four mutations were found to affect the translated protein and each of them corresponded to a particular disease haplotype that has been previously reported.

 

Keywords:
  • Macular Corneal Dystrophy (MCD)
  • Iranian Patients
  • Carbohydrate Sulfotransferase 6 Gene (CHST6)

How to Cite

ATAEI, M., ZARE MEHRJERDI, M. A., YAZDI, A. R., ZAMANI, A., FARAJE ILANJEGH, A., & HOUSHMAND, M. (2010). Mutations in Corneal Carbohydrate Sulfotransferase 6 Gene (Chst6) in Iranian Macular Corneal Dystrophy (MCD) Patients: A Report of 7 Patients from Iran. Iranian Journal of Child Neurology, 4(2), 55–58. https://doi.org/10.22037/ijcn.v4i2.1872
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