PHF5A, a core component of the SF3B complex, is a ubiquitously expressed and evolutionarily highly conserved nuclear protein. The spliceosomal SF3B complex plays a role in splicing of pre-mRNAs. Pathogenic variants in genes encoding core components of the spliceosome cause a spectrum of disorders, named spliceosomopathies.
The syndrome caused by heterozygous PHF5A pathogenic variants is a multisystem disorder characterized by congenital malformations, including preauricular tags and hypospadias, growth abnormalities, and developmental delay.
PHF5A