Publication: Validation of tox3 gene mutation and risk identification in non-syndromic cleft lip and palate deformities in malay patients
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Date
2022
Authors
Abualjubain, Izzeddin J. J.
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Abstract
Introduction: Orofacial cleft is a congenital anomaly of lip and/or palate that can be syndromic or non-syndromic. Non syndromic cleft lip and/or palate (NSCL/P) is an anomaly with a physical deformity alone. Several genetic and environmental factors have been studied to find their association with NSCL/P. Objective: This study was conducted to determine the role of a novel TOX3 gene mutation in NSCL/P and its association with the environmental factors that may be contributing to increase in patients with NSCL/P. Methodology: This was a case-control study conducted in Reconstructive Science Unit, Universiti Sains Malaysia. Fifty Malay patients with NSCL/P and 50 healthy individuals without cleft or family history of cleft disorder as control. Blood samples were obtained from consented patients and controls for genetic study of TOX3 copy number variation, and patients proforma to detect the environmental associated factors. Results: Our results showed that the median score of TOX3 genes copy number was lower in patients with cleft as compared to the control but not to a significant level. Only one variable of maternal age in environmental factors showed statistically significant association with TOX3 risk mutation in NSCL/P (p=0.043) whereas cleft deformity increases with an increase in mother’s age. Other variables showed no significant result, however TOX3 scores were lower in patients than in controls in folic acid deficiency, maternal diabetes, exposure to toxins, positive family history of cleft. Conclusion: TOX3 gene did not show a significant difference between patients with NSCL/P and control. Maternal age only has significant association with mutated TOX3 that may cause NSCL/P. Hence larger sample size in Malay population can be studied in future
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