Variant analysis of FOXE1 gene in non-syndromic cleft lip and palate patients of Peshawar, Pakistan | [Molecular Medicine Communications • 2023]

Author(s):

1. Sara Mannan: Institute of Basic Medical Sciences, Khyber Medical University,Peshawar 25120, KP,Pakistan

2. Fariya Khan Bazai: Quetta Institute of Medical Sciences,Quetta,Pakistan

3. Jamil Ahmad: Montreal Neurological Institute, McGill University,Montreal, QC,Canada

4. Ishaq N. Khan: Institute of Basic Medical Sciences, Khyber Medical University, Peshawar 25120, KP, Pakistan; Texas A&M Health Science Center, Joe H. Reynolds Medical Build, College Station, TX 77843, United States

5. Obaidullah: Burns, Plastic and Reconstructive Surgerical Unit, Northwest General Hospital & Research Centre,Peshawar,Pakistan

6. Zilli Huma: Institute of Basic Medical Sciences, Khyber Medical University,Peshawar 25120, KP,Pakistan

Abstract:

One of the most common structural birth defects is the cleft lip and palate, having an incidence rate of 1:700 live births worldwide. It can be isolated cleft lip, isolated cleft palate or a combination of both cleft lip and palate. The orofacial cleft can be caused by a variety of genetic and environmental factors or through an interaction between these factors. The gene Forkhead Box protein E1 (FOXE1) has been documented to be involved with cleft lip and palate. The present study aims to screen mutations in FOXE1 and to correlate phenotype and genotype of affected individuals. After obtaining ethical approval, peripheral blood samples were collected from 100 affected individuals, irrespective of age and gender. The genomic DNA was extracted, followed by quality control through spectrophotometer and gel electrophoresis. Polymerase chain reaction (PCR) was carried out to perform the targeted Sanger sequencing of FOXE1 gene. A point mutation (c.274C>T, rs3021526) in FOXE1 gene was detected in 15 samples. Based on phenotype, males and isolated cleft palate type was commonly involved,with bilateral occurrence, and moderate cases were frequently seen among the enrolled patients. In this study, a missense substitution was observed in gene FOXE1. This study provides a foundation for genetic counseling for families at risk and offer valuable insights for prevention and management plans.

Page(s): 21-33

DOI: 10.55627/mmc.003.01.0302

Published: Journal: Molecular Medicine Communications, Volume: 3, Issue: 1, Year: 2023

Keywords:

Pakistani population , Cleft lip and palate , FOXE1 gene

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