A novel variant in the FLNB gene associated with spondylocarpotarsal synostosis syndrome
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Hina Qasim
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Muhammad Naveed Umar
Abstract
Objectives
Genetic disorders involved in skeleton system arise due to the disturbance in skeletal development, growth and homeostasis. Filamin B is an actin binding protein which is large dimeric protein which cross link actin cytoskeleton filaments into dynamic structure. A single nucleotide changes in the FLNB gene causes spondylocarpotarsal synostosis syndrome, a rare bone disorder due to which the fusion of carpels and tarsals synostosis occurred along with fused vertebrae. In the current study we investigated a family residing in north-western areas of Pakistan.
Methods
The whole exome sequencing of proband was performed followed by Sanger sequencing of all family members of the subject to validate the variant segregation within the family. Bioinformatics tools were utilized to assess the pathogenicity of the variant.
Results
Whole Exome Sequencing revealed a novel variant (NM_001457: c.209C>T and p.Pro70Leu) in the FLNB gene which was homozygous missense mutation in the FLNB gene. The variant was further validated and visualized by Sanger sequencing and protein structure studies respectively as mentioned before.
Conclusions
The findings have highlighted the importance of the molecular diagnosis in SCT (spondylocarpotarsal synostosis syndrome) for genetic risk counselling in consanguineous families.
Acknowledgments
The authors extend their appreciation to the researchers supporting Project number (RSP2024R33) King Saud University, Riyadh, Saudi Arabia, for financial support.
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Ethical approval: The local Institutional Review Board deemed the study exempt from review.
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Informed consent: Informed consent was obtained from all individuals included in this study.
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Author contributions: Hina Qasim, Hayat Khan, Humaira Zeb, Akmal Ahmad, Muhammad Ilyas, Muhammad Zahoor, Muhammad Naveed Umar, Riaz Ullah, and Essam A. Ali are all equal contributors. All authors have accepted responsibility for the entire content of this manuscript and approved its submission.
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Competing interests: Authors state no conflict of interest.
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Research funding: Researchers supporting Project number (RSP2024R33) King Saud University, Riyadh, Saudi Arabia, for financial support.
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© 2024 Walter de Gruyter GmbH, Berlin/Boston
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- A novel variant in the FLNB gene associated with spondylocarpotarsal synostosis syndrome
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Artikel in diesem Heft
- Frontmatter
- Editorials
- Doctor patient relationship in AI era: trying to decipher the problem
- “Adiponcosis interplay: adipose tissue, microenvironment and prostate cancer”
- Minireview
- Interplay between male gonadal function and overall male health
- Reviews
- How should we differentiate hypoglycaemia in non-diabetic patients?
- Pozelimab, a human monoclonal immunoglobulin for the treatment of CHAPLE disease
- Cannabis effectiveness on immunologic potency of pulmonary contagion
- Exploring the impact of vitamin D on tendon health: a comprehensive review
- The underlying causes, treatment options of gut microbiota and food habits in type 2 diabetes mellitus: a narrative review
- Original Articles
- Long-term functional outcomes and predictors of efficacy in thulium laser enucleation of the prostate (ThuLEP) for benign prostatic hyperplasia (BPH): a retrospective observational study
- Investigating Majhool date (Phoenix dactylifera) consumption effects on fasting blood glucose in animals and humans
- A novel variant in the FLNB gene associated with spondylocarpotarsal synostosis syndrome
- Exploring pathogenic pathways in carpal tunnel syndrome: sterile inflammation and oxidative stress
