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Paper Information

Journal:   JOURNAL OF CURRENT OPHTHALMOLOGY   2004 , Volume 17 , Number 2; Page(s) 19 To 23.
 
Paper: 

MUTATION ANALYSIS IN A SERIES OF IRANIAN PATIENTS WITH MACULAR CORNEAL DYSTROPHY IN FARABI EYE HOSPITAL

 
 
Author(s):  HASHEMIAN M.N., ESHGHABADI A., ZARE M.A.*, ATAEI M., HOUSHMAND M., SANATEI M.H.
 
* Farabi Hospital, Tehran University of Medical Sciences
 
Abstract: 

Purpose: Macular corneal dystrophy (MCD) is an autosomal recessive disorder characterized by progressive central haze, confluent punctate opacities and abnormal deposits in the cornea. It is caused by mutations in the CHST6 gene, encoding corneal GLC N Ac-6.0-ST. We screened the GHST6 gene for mutations in Iranian Families with MCD, in order to determine the range of pathologic mutations.
Methods: DNA was extracted from venous blood of 17 patients and healthy control subjects. The coding region of the CHST6 gene was amplified using three pairs of primers and ampified products were directly sequenced.
Results: Analysis of the CHST6 coding region in 17 patients with MCD identified 4 homozygous missense mutations (H249 R, P31L, R127C, S136?), 4 compound heterozygous missense mutations (C165S and P132L, C149Y and C149 ?), one heterozygous missense mutation (D203 V), One frameshift homozygous mutation (1580 Ins C) and One homozygous nonsense mutation (stop codon in serine 48). None of these mutations were detected in the control group.
Conclusion: Seven novel mutations and four previously reported mutations were identified in our patients. These molecular results in Iranian patients with MCD combined with those reported in previous studies indicated CHST6 mutational heterogeneity.

 
Keyword(s): MACULAR CORNEAL DYSTROPHY, MUTATION, CHST6 GENE
 
References: 
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