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Afsheen Arif has completed her Ph.D. (Biotechnology) in 2013 from The Karachi Institute of Biotechnology and Genetic Engineering, KIBGE, University of Karachi and currently working as an Assistant Professor. She had more than 12 years of research experience. She has expertise in biotechnology, genetics and molecular biology. Research is her passion and she has keen interests are to study molecular genetics of rare diseases. She has ten publications in reputed journals. In Future, She would like establish stem cell and regenerative medicine laboratory.


Congenital heart diseases (CHDs) are the most common of all birth defects and one of the leading causes of mortality in the fi rst year of life. CFC1 gene is a cell signaling protein and it is a co-receptor in nodal signaling pathway and involve in right and left axis determination during gastrulation. Th is is a case control study, recruited 175 non syndromic patients and 140 controls, healthy unrelated individuals. Th e study aft er formal approval includes patients from various pediatric cardiology centers in three years. A detailed family history was taken to elucidate the genetic and environmental factors. Pediatric cardiologist confi rmed the diagnosis on the basis of all standard testing like chest X-ray, CBC, ECG, ECHO, heart murmur, cardiac catherization reports etc. DNA extraction and sequencing was done and data was interpreted by multiple sequence alignment soft ware. Statistical data was done by SPSS 17.0. Th e mean age for controls was 3.14±1.82 years for TOF; 2.97±1.21 and for DTGA patients 1.84±2.26 years. TOF and DTGA were frequent in males. Th e study demonstrates frequency of this disease with its variation in Pakistani population. Consanguinity aff ects the rate of CHDs as it is 62% in patients and 25% in controls. Two novel mutations were found in CFC 1 gene. Th e study reveals frequency and prevalence for TOF and DTGA, their variation and association with other cardiac defects. CFC1 and its mutations may play a key role in cardiac malformation.

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