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CFC1 gene mutation in tetralogy of Fallot and dextro‐transposition of great arteries in Pakistani population. (404.2)
Author(s) -
Arif Afsheen,
Zehra Sitwat,
Qamarunissa Syeda,
Patel Najma,
Azhar Abid
Publication year - 2014
Publication title -
the faseb journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.709
H-Index - 277
eISSN - 1530-6860
pISSN - 0892-6638
DOI - 10.1096/fasebj.28.1_supplement.404.2
Subject(s) - tetralogy of fallot , great arteries , medicine , exon , family history , population , mutation , cardiology , heart disease , pediatrics , gene , bioinformatics , genetics , biology , environmental health
Background: Congenital heart diseases (CHDs) are the most common of all birth defects and one of the leading causes of mortality in the first year of life. CFC1 gene is a cell signaling protein is a co receptor in nodal signaling pathway and involve in right and left axis determination during gastrulation. Materials and Methods: This is a case‐control study, recruited 225 non syndromic patients and 140 controls, healthy unrelated individuals. The study, after 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 confirmed the diagnosis on the basis of all standard testing like chest X‐ray, CBC, ECG, ECHO, cardiac catherization reports etc. DNA extraction and sequencing was done and data was interpreted by multiple sequence alignment software. Statistical data was done by SPSS 17.0. Results: The 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. The study demonstrates frequency of this disease; with its variation in Pakistani population. Consanguinity affects the rate of CHDs, as it is 62% in patients and 25% in controls. Two novel mutations were found in CFC 1 gene.First in exon 5 at c. 396 C>A and second in exon 6 at c. 548 C>T. Conclusions: The study demonstrates frequency and prevalence for TOF, and DTGA, there variation and association with other cardiac defects. Environmental factors are taken into consideration and consanguinity proves to be an element for the increasing number of disease. CFC1 plays a key role in cardiac malformation and its mutations.