A genotyping assay for missense mutation in WISP3 gene associated with childhood onset pseudorheumatoid arthropathy

Authors

  • Lejla Pojskic Institute for Genetic Engineering and Biotechnology
  • Ismet Gavrankapetanovic Clinical Center of University of Sarajevo, Clinic for Orthopaedics and Traumatology, Sarajevo
  • Naida Lojo-Kadric Institute for Genetic Engineering and Biotechnology, University of Sarajevo, Sarajevo
  • Rifat Hadziselimovic Institute for Genetic Engineering and Biotechnology, University of Sarajevo, Sarajevo and Faculty of Sceience University of Sarajevo
  • Kasim Bajrovic Institute for Genetic Engineering and Biotechnology, University of Sarajevo, Sarajevo

DOI:

https://doi.org/10.17532/jhsci.2015.241

Keywords:

Progressive pseudorheumatoid dysplasia (PPD), genetic diagnosis, WISP3 mutation, familial mutation

Abstract

Introduction: Progressive pseudorheumatoid dysplasia (PPD) is an autosomal recessive genetic disorder reported to be caused by gene alterations of the Wnt1-inducible signaling pathway protein 3 corresponding gene (WISP3) located on chromosome position 6q22.  Up to date, there is only a handful of WISP3 mutations identified in Europe, whereas most mutations are identified in Asia and Middle East.  According to our knowledge, this is the first report of genetic dissection of WISP3 associated with spondyloepiphyseal dysplasia tarda from Bosnia and Herzegovina. Based on clinical examination findings (general manifestations, physical examination, characteristics of their bones on X-ray and laboratory results), an index patient was directed to WISP3 genotyping for confirmation of suspected diagnosis of PPD.

Methods: DNA was extracted from peripheral blood leukocytes. All 5 exons and their exon-intron boundaries of the WISP3 gene were amplified by polymerase chain reaction (PCR) and sequenced by Sanger method. Segregation analysis was done to confirm the familial carrier status.

Results: A missense mutation (C223G) - homozygous T to G transition at c.667 in exon 4 was identified in index patient. This mutation changed codon CAG to TAG and resulted in a subsequent change of the cysteine to glycine codon. Same mutation was observed in both parents in heterozygous form confirming the familial segregation.

Conclusion: Due to its nature, the identified mutation C223G in exon 4 in WISP3 gene is the most probably causative for PPD in described patient. Here we describe the PCR based method for genotyping of specific mutation in WISP3 gene. The identification of this mutation might be a valuable addition to a regional databases on rare genetic variant although a functional analysis should be performed to explain its pathological effect.

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Author Biographies

  • Lejla Pojskic, Institute for Genetic Engineering and Biotechnology
    Laboratory for Human Genetics
  • Ismet Gavrankapetanovic, Clinical Center of University of Sarajevo, Clinic for Orthopaedics and Traumatology, Sarajevo
    Head, Clinic for Orthopaedics and Traumatology
  • Naida Lojo-Kadric, Institute for Genetic Engineering and Biotechnology, University of Sarajevo, Sarajevo
    Lab. for Human Genetics
  • Rifat Hadziselimovic, Institute for Genetic Engineering and Biotechnology, University of Sarajevo, Sarajevo and Faculty of Sceience University of Sarajevo
    Science Advisor
  • Kasim Bajrovic, Institute for Genetic Engineering and Biotechnology, University of Sarajevo, Sarajevo

    Director

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Published

29.09.2015

Issue

Section

Short communication

How to Cite

1.
A genotyping assay for missense mutation in WISP3 gene associated with childhood onset pseudorheumatoid arthropathy. JHSCI [Internet]. 2015 Sep. 29 [cited 2024 Apr. 24];5(2):59-64. Available from: https://www.jhsci.ba/ojs/index.php/jhsci/article/view/394

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