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Two novel variants in CYP1B1 gene: a major contributor of autosomal recessive primary congenital glaucoma with allelic heterogeneity in Pakistani patients

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International Journal of Ophthalmology(English edition) 2019年第1期12卷 8-15页

作者： Yar Muhammad Waryah Muhammad Iqbal Shakeel Ahmed Sheikh Muhammad Azhar Baig Ashok Kumar Narsani Muhammad Atif Munir Ahmad Bhinder Attiq Ur Rahman Azam Iqbal Memon Muhammad Suleman Pirzado Ali Muhammad Waryah Molecular Biology and Genetics Department Liaquat University of Medical and Health Sciences Department of Biochemistry Islamia University Bahawalpur Institute of Ophthalmology Liaquat University of Medical and Health Sciences Department of Human Genetics University of Health Sciences Lahore Center of Excellence in Marine Biology University of Karachi

AIM: To find the CYP1 B1 mutations associated with primary congenital glaucoma(PCG) in Pakistani consanguineous pedigrees. METHODS: After getting informed consent, 11 consanguineous pedigrees belonging to different ethnic groups were enrolled. Detailed medical history was recorded and pedigrees were drawn. The standard ophthalmological examination was done to characterize the phenotype. Genomic DNA was extracted from 10 mL whole blood and coding exons and exon intron boundaries of CYP1 B1 gene were directly sequenced. Bioinformatics tools were used to model the mutant protein and predict the effect of novel variants on protein structure and function. RESULTS: Sequencing analysis revealed 5 different CYP1 B1 variants in 7 families(7/11; 64%), including two novel variants. A common mutation, p.R390 H was found in four families, whereas p.P437 L was found once in a family. Two novel variants, a homozygous non sense variant p.L13* and a compound heterozygous variant, p.P350 T along with p.V364 M were segregating with PCGin two families. All the patients had the variable onset and severity of the disease. The success rate of early clinical interventions was observed dependent on mutation types and position. Two different haplotypes were associated with frequently found mutation, p.R390 H. CONCLUSION: Identification of novel CYP1 B1 variants reassert the genetic heterogeneity of Pakistani PCG patients. The patients with missense mutations show severe phenotypic presentations and poor vision after surgical interventions as compare to patients with null variants. This may help to better understand the role of CYP1 B1 mutations in the development of PCG and its course of pathogenicity.

关键词： CYP1B1 mutations primary congenital glaucoma genetics

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Lipid profile in children with coronary artery disease in Sindh,Pakistan

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World Journal of Cardiology 2014年第7期6卷 671-674页

作者： Saira Baloch Bikha Ram Devrajani Mohsin Ali Baloch Mohammad Ali Pir Medical Research Center Liaquat University of Medical and Health Sciences Faculty of Pharmacy University of Sindh Department of Community Medicine and Public Health Liaquat University of Medical and Health Sciences

AIM:To evaluate lipid profile in children with coronary artery disease(CAD)in Hyderabad,Sindh,***:The study included 100 children(6-15years),of which 43 were children of young parents(one or both)with recognized CAD,while the other 57 were children with no evidence of CAD(controls).All were evaluated for fasting blood lipid *** samples were collected from patients with CAD and healthy controls and analysis of the levels of lipid profile were carried out using a kit method on Microlab ***:Children with CAD had significantly higher levels of total serum cholesterol and triglycerides and decreased levels of high density lipoprotein and low density lipoprotein compared to children in the control *** and diastolic blood pressures were significantly higher,without any significant ***:CAD risk factors are significant regarding abnormal lipid *** tendency seems to be important in the development of CAD in children.

关键词： Serum Lipid profile Coronary artery disease Children Sindh

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