AI Article Synopsis
- Turnpenny-Fry syndrome (TPFS) is a rare genetic disorder marked by global developmental delay, intellectual disability, facial anomalies, and skeletal issues, linked to the PCGF2 gene, which is part of the polycomb repressive complex 1 (PRC1) involved in gene expression regulation.
- A clinical study focused on a 2.5-year-old boy with GDD and ID included MRI scans and genetic testing, revealing a specific genetic variant (c.194C > T) likely inherited from a mosaic father.
- The study found that this variant negatively affects the structure and stability of the PCGF2 protein, suggesting its potential role in causing GDD.
Article Abstract
Background: Turnpenny-Fry syndrome (TPFS) has recently been defined as an uncommon monogenic disease and is characterized by global developmental delay (GDD), intellectualdisability (ID), facial dysmorphology, and skeletal abnormality. is the only known causative gene for TPFS, which is a component of polycomb repressive complex 1 (PRC1). PRC1 is a multi-protein complex controlling the knockdown of gene expression.
Methods: The present study included the clinical evaluation of a 2.5-year-old boy with GDD and ID using cerebral MRI and the genetic testing with whole-exome sequencing. Additionally, the molecular dynamic (MD) simulation was carried out on the identified variant.
Results: A recurrent missense variant, namely : c.194C > T (p.Pro65Leu), was identified and suggested to be inherited from a mosaic father based on Sanger sequencing validation. MD results suggested a deleterious effect on the intramolecular structural flexibility and stability of PCGF2 protein by this variant.
Conclusion: Our results indicated that PCGF2: p.Pro65Leu might be a hotspot for GDD and highlighted the effect of this variant on protein function.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9452349 | PMC |
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