The effect of growth hormone treatment in children with novel BPTF gene variants: A report of two cases and literature review

Abstract

BPTF gene (OMIM*601819) encodes the bromodomain PHD finger transcription factor (BPTF), the largest unit of nucleosome remodeling factor, which regulates chromatin remodeling (Stankiewicz et al., 2017). BPTF plays a key role in the differentiation of the primary germ layers and the establishment of the embryonal anterior-posterior axis (Landry et al., 2008). The BPTF gene is located on chromosome 17q24.2. The haploinsufficiency of human BPTF is known to cause neurodevelopmental disorder with dysmorphic facies and distal limb anomalies (NEDDFL, OMIM#617755), which is clinically featured by intellectual disability (ID) or developmental delay (DD), language delay, and microcephaly (Glinton et al., 2021;Stankiewicz et al., 2017). Short stature is also a phenotypic component of NEDDFL.Herein, two novel likely pathogenic variants from two families in the Chinese population are described. Treatment of their short stature with the recombinant

Chemical proteomic profiling of protein dopaminylation in colorectal cancer cells

“…4B), which further highlighted the essential role of dopamine in neurodevelopment as a key neurotransmitter. For example, these neurodevelopment-related proteins included zinc finger protein 609 (ZNF609), 34 tuberous sclerosis complex 2 (TSC2), 35 RE1-silencing transcription factor (REST), 36 polyglutamine-binding protein 1 (PQBP1), 37 centromere protein F (CENPF), 38 nucleosome-remodeling factor subunit BPTF (BPTF), 39 muscleblind-like protein 1 (MBNL1), 40 etc. Additionally, there were other important regulators in neurobiology identified, including axin-1 (AXIN1) that participates in the blood-brain barrier (BBB) protection and improvement of neurological functions during ischemic stroke.…”

Chemical Proteomic Profiling of Protein Dopaminylation in Colorectal Cancer Cells

“…Intriguingly, even though the colon cancer cell line was utilized as a model in this research, within the cluster of identified 176 dopaminylated proteins that are associated with RNA splicing and nucleic acid-templated transcription, a subset was discovered to be linked to nervous system development (Figure B), which further highlighted the essential role of dopamine in neurodevelopment as a key neurotransmitter. For example, these neurodevelopment-related proteins included zinc finger protein 609 (ZNF609), tuberous sclerosis complex 2 (TSC2), RE1-silencing transcription factor (REST), polyglutamine-binding protein 1 (PQBP1), centromere protein F (CENPF), nucleosome-remodeling factor subunit BPTF (BPTF), and muscleblind-like protein 1 (MBNL1) . Additionally, there were other important regulators in neurobiology identified, including axin-1 (AXIN1) that participates in the blood–brain barrier (BBB) protection and improvement of neurological functions during ischemic stroke .…”

Functional screens refine height GWAS loci

“…Further supporting a function in height, mutations in BPTF in humans are associated with neurodevelopmental disorder with dysmorphic facies and distal limb anomalies (NEDDFL), a rare disease that causes short stature, among other clinical features. 7 …”