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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

1Department of Zoology, Government College University, Lahore
2Department of Biotechnology, Faculty of Life Sciences and Informatics, Balochistan University of Information Technology, Engineering and Management Sciences, Quetta
3Department of Biotechnology, Balochistan University of Information Technology, Engineering and Management Sciences, Quetta 
4School of Biological Sciences, University of the Punjab, Lahore
5Department of Biotechnology, Virtual University of Pakistan, 1-Davis Road, Lahore
6Allama Iqbal Medical College, Lahore
 
Asma Basharat and Abdul Wajid contributed equally to this article.
 
* Corresponding author: abdul.wajid@vu.edu.pk

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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Pakistan Journal of Zoology

December

Vol. 54, Iss. 6, Pages 2501-3000

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