This website provides information on patients with pathogenic variants in the PHF5A gene, including clinical data, molecular data, management, and research options.

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.
Not all individuals with a pathogenic variant in the PHF5A gene have these features (see section ‘Graph and Chart’).

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with pathogenic variants in the PHF5A gene.

Bert B.A. de Vries, MD, PhD, Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center. Nijmegen, The Netherlands, Bert.deVries@radboudumc.nl

Kerstin Kutsche, PhD, Institute of Human Genetics, University Medical Center Hamburg- Eppendorf, Hamburg, Germany, kkutsche@uke.de

Lex Dingemans, MD, Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center. Nijmegen, The Netherlands, a.dingemans@radboudumc.nl

Frederike L. Harms, PhD, Institute of Human Genetics, University Medical Center Hamburg- Eppendorf, Hamburg, Germany, fharms@uke.de