Open Access

Whole exome sequencing of a novel homozygous missense variant in PALB2 gene leading to Fanconi anaemia complementation group

  • Authors:
    • Angham Abdulrhman Abdulkareem
    • Bader H. Shirah
    • Hala Abubaker Bagabir
    • Absarul Haque
    • Muhammad Imran Naseer
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  • Published online on: March 1, 2024     https://doi.org/10.3892/br.2024.1756
  • Article Number: 67
  • Copyright: © Abdulkareem et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Partner and localiser of BRCA2 (PALB2), also known as FANCN, is a key tumour suppressor gene in maintaining genome integrity. Monoallelic mutations of PALB2 are associated with breast and overian cancers, while bi‑allelic mutations cause Fanconi anaemia (FA). In the present study, whole exome sequencing (WES) identified a novel homozygous missense variant, NM_024675.3: c.3296C>G (p.Thr1099Arg) in PALB2 gene (OMIM: 610355) that caused FA with mild pulmonary valve stenosis and dysmorphic and atypical features, including lymphangiectasia, non‑immune hydrops fetalis and right‑sided pleural effusion in a preterm female baby. WES results were further validated by Sanger sequencing. WES improves the screening and detection of novel and causative genetic variants to improve management of disease. To the best of our knowledge, the present study is the first reported FA case in a Saudi family with phenotypic atypical FA features. The results support the role of PALB2 gene and pathogenic variants that may cause clinical presentation of FA. Furthermore, the present results may establish a disease database, providing a groundwork for understanding the key genomic regions to control diseases resulting from consanguinity.
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April-2024
Volume 20 Issue 4

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Spandidos Publications style
Abdulkareem A, Shirah BH, Bagabir HA, Haque A and Naseer MI: Whole exome sequencing of a novel homozygous missense variant in <em>PALB2</em> gene leading to Fanconi anaemia complementation group. Biomed Rep 20: 67, 2024
APA
Abdulkareem, A., Shirah, B.H., Bagabir, H.A., Haque, A., & Naseer, M.I. (2024). Whole exome sequencing of a novel homozygous missense variant in <em>PALB2</em> gene leading to Fanconi anaemia complementation group. Biomedical Reports, 20, 67. https://doi.org/10.3892/br.2024.1756
MLA
Abdulkareem, A., Shirah, B. H., Bagabir, H. A., Haque, A., Naseer, M. I."Whole exome sequencing of a novel homozygous missense variant in <em>PALB2</em> gene leading to Fanconi anaemia complementation group". Biomedical Reports 20.4 (2024): 67.
Chicago
Abdulkareem, A., Shirah, B. H., Bagabir, H. A., Haque, A., Naseer, M. I."Whole exome sequencing of a novel homozygous missense variant in <em>PALB2</em> gene leading to Fanconi anaemia complementation group". Biomedical Reports 20, no. 4 (2024): 67. https://doi.org/10.3892/br.2024.1756