Journal of Clinical & Medical Genomics

Esmat Rigi Yousefabadi

Publications

• Research Article
  Three Novel CYP1B1 Mutations (p.L480P, p.S476P, p.R175P) in Primary Congenital Glaucoma Cases Residing in Eastern Iran
  Author(s): Fatemeh Arab, Esmat Rigi Yousefabadi, Ramin Daneshvar and Ehsan Ghayoor KarimianiFatemeh Arab, Esmat Rigi Yousefabadi, Ramin Daneshvar and Ehsan Ghayoor Karimiani
  
  Background purpose: Primary Congenital Glaucoma (PCG) is typically an autosomal recessive trait and is more prevalent in community with consanguineous marriage. The aim of current study was to screen 27 familial cases of PCG for CYP1B1, to identify and determine common mutations, and to understand its penetrance and prevalence in the Eastern provinces of Iran. Methods: Detailed family histories up to three generations were taken, and pedigree charts were constructed. Genomic DNA was extracted from peripheral leukocytes. Primers were designed for the two coding exons of the CYP1B1 gene and the amplified products were sequenced. PolyPhen and SIFT were used to predict the functional impact of novel mutations identified in this study. Results: Seventeen of 27 subjects (62.96%) had mutations in the CYP.. Read More»
  

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