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Investigation of an inherited PCGF2: p.Pro65Leu mutation causing Turnpenny-Fry syndrome.

Authors :
Qi KY
Shen M
Yang K
Yan YS
Wu J
Wang YP
Yin CH
Source :
American journal of translational research [Am J Transl Res] 2022 Aug 15; Vol. 14 (8), pp. 5591-5597. Date of Electronic Publication: 2022 Aug 15 (Print Publication: 2022).
Publication Year :
2022

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. PCGF2 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.<br />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 in silico molecular dynamic (MD) simulation was carried out on the identified variant.<br />Results: A recurrent missense variant, namely PCGF2 : 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.<br />Conclusion: Our results indicated that PCGF2: p.Pro65Leu might be a hotspot for GDD and highlighted the effect of this variant on protein function.<br />Competing Interests: None.<br /> (AJTR Copyright © 2022.)

Details

Language :
English
ISSN :
1943-8141
Volume :
14
Issue :
8
Database :
MEDLINE
Journal :
American journal of translational research
Publication Type :
Academic Journal
Accession number :
36105049