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ORIGINAL ARTICLE
Year : 2020  |  Volume : 4  |  Issue : 1  |  Page : 25-30

Mutation screening of genes associated with congenital talipes equinovarus in pakistani families


1 Department of Anatomy, Institute of Basic Medical Science, Khyber Medical University, Peshawar, Pakistan; Department of Anatomy, College of Medicine, Al-Rayan Colleges, Taibah University, Almadinah Almunawwarah, KSA
2 Department of Anatomy, Institute of Basic Medical Science, Khyber Medical University, Peshawar, Pakistan
3 Department of Anatomy, College of Medicine, Al-Rayan Colleges, Taibah University, Almadinah Almunawwarah, KSA
4 Center for Genetics and Inherited Diseases, Taibah University, Almadinah Almunawwarah, KSA

Correspondence Address:
Dr. Sulman Basit
Center for Genetics and Inherited Diseases, Taibah University, 30001 Almadinah Almunawarah
KSA
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/jmsr.jmsr_94_19

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Objectives: Congenital talipes equinovarus (CTEV) is characterized by midfoot cavus, forefoot adducts, hindfoot varus, and equinus. The condition leads to difficulty in walking. CTEV is one of the most common congenital birth defects and an incidence of 1–2/1000 newborns has been reported. The etiology of the CTEV is not completely understood. Multiple etiological factors, both environmental and genetic, have been implicated in the pathogenesis of CTEV. Genetic factors associated with the development of CTEV include mutations in genes related to limb patterning and development of muscle and blood vessels. The present study aims to screen four genes to detect the mutation underlying CTEV in families from Pakistan. Methods: Peripheral blood samples were collected from ten individuals from two Pakistani families with CTEV segregating in an autosomal recessive manner. Genomic DNA was isolated, followed by primer designing and Sanger sequencing of four known genes associated with the isolated form of CTEV (TBX4, PITX1, HOXD12, and HOXD9). Results: Clinical diagnoses of the affected individuals were made by consultant orthopedics. Sequencing analyses revealed that the four candidate genes screened here are not responsible for the CTEV phenotype in both families. Conclusion: Failure to detect sequence variant in four known genes associated with the isolated form of CTEV lead us to the conclusion that TBX4, PITX1, HOXD12, and HOXD9 mutations are not responsible for CTEV in both families. Therefore, genome-wide studies, including whole-genome single nucleotide polymorphism genotyping and whole-exome sequencing, are required to identify the underlying genetic defects in these families.


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