Nov 30, 2023
Bromodomain PHD Finger Transcription Factor
The BPTF gene codes for the Bromodomain PHD Finger Transcription Factor, a protein that regulates the NURF-1 and NURF-5 ISWI chromatin remodeling complexes (Oppikofer et al. 2017). These complexes are involved in the regulation of gene expression involved in brain development (Barak et al. 2003).
Variants causing haploinsufficiency of the BPTF gene are associated with a neurodevelopmental disorder with dysmorphic facial features and limb anomalies (Stankiewicz et al. 2017). More recently, Glinton et al. (2021), identified 25 individuals with 20 distinct phenotypes suggesting a broad and variable clinical picture of individuals with BPTF variants.
A heterozygous change in this gene was identified in a UDN participant.
Interested in learning more about this gene or sharing what you know? Contact us!
