On this page, you will find information about a genetic change that was identified in a UDN participant. We are trying to find others with the same or similar condition.

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A change in the BPTF gene was identified in a UDN participant with abnormal muscle twitching, saliva build up, and autism.

Date of Report

Nov 30, 2023

Full Name

Bromodomain PHD Finger Transcription Factor

Chromosome 17q24.2


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.

Database Links

GeneCards: BPTF

NCBI Gene: 2186

OMIM: 601819

UniProtKB/Swiss-Prot: Q12830

Clinical Significance

A heterozygous change in this gene was identified in a UDN participant

Inheritance Pattern Autosomal dominant
Position (hg19) chr17:g.67946274G>T
Transcript NM_182641.4
DNA Change c.7566G>T
Protein Change p.Lys2522Asn
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