Research in Genes and Proteins Open Access
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Saqib Ishaq*, Abdul Aziz, Obaid Habib, Raheel Tahir, Muhammad Afzal, Muhammad Inam ul Haq, Musarrat Jabeen, Zaib Un Nisa, Khalid Usman and Muhammad Kashif
Background: Postaxial polydactyly is a congenital disorder of the limb abnormalities by posterior extra digits. The ZNF141 gene mutation in the N-terminal region were recently linked with PAP typeA. The ZNF141 gene have two domain C2-H2. Typically, C2-H2 domain comprise two cysteine in one chain and two Histidine in other chain. The missence mutation occur in chromosome 4P16.3 varient ID Q15928.1, result amino acid changes at 474 of threonine into isoleucine.
Methods: In this study a missense mutation determines by in Pakistani families which cause PAP type A. Whole exome sequencing identified by the missense mutation was carried out by the causative gene. Bioinformatics tools were used for confirmation of pathogenicity of the identified mutations.
Results: The novel missense mutations, c.1420C>T; p.T474I in ZNF141 gene were identified in Pakistani families, respectively. Whole exome sequencing confirmed co-segregation of the mutations with disease phenotypes in Pakistani families. In silico analysis of the sequence variants confirmed their pathogenicity.
Conclusion: The report of ZNF141 gene mutations in Pakistani families, which support the frequent involvement of ZNF141 sequence variants in obesity. The study provide molecular docking to the active binding site of ZNF141 protein with PAP type A.
Published Date: 2023-08-17; Received Date: 2023-05-18