Two Novel Missense Tbx22 Mutations Frequently Cause Non-Syndromic Cleft Palate in Pakistani Population
Two Novel Missense Tbx22 Mutations Frequently Cause Non-Syndromic Cleft Palate in Pakistani Population
Asma Basharat1, Abdul Wajid2*, Andleeb Batool1, Tayyeba Batool3, Abdul Basit4, Kamran Abbas5, Aziz Ullah1 and Mahmood Shaukat6
ABSTRACT
Cleft palates (CP) are the most common birth defect with highly complex etiology, involves both genetic and environmental risk factors. In the present study, we focused on TBX22 gene, which is a major gene determinant essential to human palatogenesis. We analyzed a total of 134 DNA samples including 51 CP clinically assessed patients and 83 healthy controls. Our preliminary results revealed two novel missense substitutions i.e. P180Q in T-box domain and S328I in C-terminal of TBX22, while unrelated healthy controls revealed no sequence variants in these locations. The present report is first of its kind in Pakistani population. The findings suggest that TBX22 polymorphisms may responsible for a significant proportion of non-syndromic CP cases in Pakistani population and confirming its importance as a frequent cause of non-syndromic CP across various populations. The robustness of the association between TBX22 and CP is worth further examination in the future across different populations.
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