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

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.

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.

Results

A recurrent missense variant, namely PCGF2: c.194C

SUBMITTER: Qi KY 

PROVIDER: S-EPMC9452349 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature