Work

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

Year: 2022

Type: article

Abstract: BACKGROUND: 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: molecular dynamic (MD) simulation was carried out on the identified variant. RESULTS: : 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.

Source: PubMed

Authors: Ke-Yan Qi, Ming Shen, Kai Yang, You-Sheng Yan, Jue Wu, Yi-Peng Wang, Cheng-Hong Yin

Institutions: Capital Medical University, Beijing Obstetrics and Gynecology Hospital, Chinese PLA General Hospital

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

OpenAlex ID: W4295902036

FWCI: 0.122

Cites: 24

Cited by: 2

Related to: 10