Pathogenic Variants in KIAA0825 &GLII Causes Postaxial Polydactyly in two Consanguineous Pakistani Families | [Abstract Book on International Conference on Life Sciences (ICLS-23) 11-12 May 22-23 • 2023]

Author(s):

1. Safeer Ahmad: Gomal Centre of Biochemistry and Biotechnology, Gomal University, D.I.Khan, 29050, Khyber Pakhtunkhwa, Pakistan; Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland

2. M. Zeeshan Ali: Gomal Centre of Biochemistry and Biotechnology, Gomal University, D.I.Khan, 29050, Khyber Pakhtunkhwa, Pakistan

3. M. Muzammal: Gomal Centre of Biochemistry and Biotechnology, Gomal University, D.I.Khan, 29050, Khyber Pakhtunkhwa, Pakistan

4. Amjad Ullah Khan: Gomal Centre of Biochemistry and Biotechnology, Gomal University, D.I.Khan, 29050, Khyber Pakhtunkhwa, Pakistan

5. M. Ikram: Gomal Centre of Biochemistry and Biotechnology, Gomal University, D.I.Khan, 29050, Khyber Pakhtunkhwa, Pakistan

6. Mari Muurinen: Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland; Children’s Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland; Folkhälsan Research Centre, Folkhälsan Institute of Genetics, Helsinki, Finland

7. Shabir Hussain: Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland

8. Petra Loid: Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland; Children’s Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland; Folkhälsan Research Centre, Folkhälsan Institute of Genetics, Helsinki, Finland

9. Muzammil Ahmad Khan: Gomal Centre of Biochemistry and Biotechnology, Gomal University, D.I.Khan, 29050, Khyber Pakhtunkhwa, Pakistan

10. Outi Mäkitie: Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland; Children’s Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland; Folkhälsan Research Centre, Folkhälsan Institute of Genetics, Helsinki, Finland

Abstract:

Background: Polydactyly, also referred to as hyperdactyly, is a limb abnormality that results in extra fingers and/or toes. There are different phenotypic variants of polydactyly viz, preaxial polydactyly (PPD) which is the duplication of the thumb or big toe, central polydactyly is the duplication of the central digits, and postaxial polydactyly (PAP) is the duplication of little finger. PAP is further classified as type A (when the additional digit is truly developed) or type B (when the extra digit is rudimentary and pedunculated). Methods: We studied two unrelated consanguineous Pakistani families inheriting autosomal recessive PAPA with variable intra- and inter-familial phenotypes. Whole exome sequencing, Sanger sequencing and in silico predictions were carried out for mutation identification and its functional characterization respectively. Results: Whole exome analysis revealed a novel missense variant c.3572C>T (p.1191P>L) in geneKIAA0825 in family A and a nonsense variant c.337C>T (p.R113*) in geneGLI1 in family B. In silico analyses of mutant KIAA0825 and GLI1 proteins showed substantial structural and interactional variations, suggesting the defective role of these proteins and thus involved in disease progression. Conclusion: The current study expands the mutational spectrum of KIAA0825 and GLI1 with variable phenotypes. Furthermore, the research will aid in genetic counseling for Pakistani families with polydactyly related phenotype.

Page(s): 12-12

DOI: DOI not available

Published: Journal: Abstract Book on International Conference on Life Sciences (ICLS-23) 11-12 May 22-23, Volume: 0, Issue: 0, Year: 2023

Keywords:

Whole exome sequencing , PAPA , Pakistani families , GLI1 , KIAA0825

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