P226: Comprehensive variant curation in BMP4 identifies a definitive association of midline and developmental defects in patients without ocular anomalies
Abstract
The gene BMP4 encodes the bone morphogenetic protein 4 ligand, which is involved in SMAD family transcription factor activation, modulating gene expression. Pathogenic variants in this gene have been associated with autosomal dominant syndromic patients with anophthalmia or microphthalmia accompanied by a variety of developmental defects since the early 1990s. Three decades later, the associated phenotype accepted by many reputable institutions has remained microphthalmia with brain and digit anomalies, despite additional clinical reports and functional models suggesting variability in the phenotype.
Fields of Study & Subjects
Ocular Disorders and Treatments
Genomics and Rare Diseases
Connective tissue disorders research
Publication details
- Journal / source
- Genetics in Medicine Open
- Volume
- 4
- Pages
- 103720–103720
- Publication date
- 1 January 2026
- Language
- EN