Related Experiment Video
Updated: Sep 16, 2025
06:41
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
13.8K
Cyclical Vomiting Syndrome in Individuals With BPTF Haploinsufficiency
Alessandro Ferretti1, Margherita Furlan2, Kevin E Glinton3
1Pediatrics Unit, Faculty of Medicine and Psychology, Neuroscience, Mental Health and Sense Organs (NESMOS) Department, Sapienza University of Rome, Rome, Italy; Department of Clinical Neurophysiology, Danish Epilepsy Centre, Dianalund, Denmark; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark.
Pediatric Neurology
|July 4, 2025
Summary
Bromodomain PHD finger transcription factor (BPTF) gene haploinsufficiency causes a neurodevelopmental disorder. Cyclical vomiting syndrome (CVS) is identified as a core feature, impacting affected individuals and their families.
Area of Science:
- Genetics and Neurodevelopmental Disorders
- Gastrointestinal Symptomatology
- Chromatin Remodeling
Background:
- Haploinsufficiency of the bromodomain PHD finger transcription factor (BPTF) gene is linked to a neurodevelopmental disorder.
- This disorder presents with dysmorphic facies, limb anomalies, neurological issues, epilepsy, and gastrointestinal symptoms.
Purpose of the Study:
- To investigate the association between BPTF gene variants and neurodevelopmental disorders, with a focus on gastrointestinal symptoms.
- To characterize the prevalence and clinical features of cyclical vomiting syndrome (CVS) in individuals with BPTF haploinsufficiency.
Main Methods:
- Recruitment of families with BPTF-related neurodevelopmental disorders through international collaboration.
- Data collection via questionnaires covering demographics, clinical features, genetics, and comorbidities, specifically focusing on CVS.
- Diagnosis of CVS using International Classification of Headache Disorders, 3rd edition (ICHD-3) criteria; analysis of genetic variants and therapy effectiveness.
Main Results:
- Fifteen individuals with pathogenic BPTF variants were enrolled; 20% were diagnosed with CVS, and an additional 26.7% met criteria for CVS.
- In affected individuals, CVS onset was at a median age of 3 years, with episodes triggered by poor sleep and fever.
- Therapies showed clinical benefit, but episodes caused significant emotional stress and disruption to daily family life.
Conclusions:
- BPTF haploinsufficiency is associated with a broader syndromic phenotype that includes cyclical vomiting syndrome (CVS) as a core feature.
- These findings enhance clinician awareness and understanding of this rare neurodevelopmental disorder and guide management strategies.
Related Concept Videos
01:35Pedigree Analysis
85.3K
Overview
85.3K
01:30Bulimia Nervosa
200
Bulimia nervosa is a complex and severe eating disorder characterized by a cyclical pattern of binge-and-purge eating pattern. It generally involves an episode of binge eating, followed by compensatory behaviors such as vomiting, excessive exercise, laxative use, or fasting, to prevent weight gain. Despite often maintaining a normal weight, individuals with bulimia are intensely preoccupied with their body image and harbor an overwhelming fear of gaining weight. This can contribute to the...
200
01:22Pathophysiology of Vomiting
1.2K
Vomiting is a complex physiological response to expel harmful or irritating substances from the body. It's a defensive mechanism triggered by stimuli like poisons, microbial toxins, cytotoxic drugs, and mechanical abdominal distension. The process is centrally coordinated by the vomiting (or emetic) center located in the medulla of the brainstem. This area, rich in muscarinic M1, histamine H1, neurokinin 1 (NK1), and serotonin 5-HT3 receptors, coordinates the act of vomiting through...
1.2K
01:30Bipolar Disorder
150
Bipolar disorder is a chronic mental health condition marked by significant mood fluctuations, including episodes of mania and depression. Elevated energy levels, heightened mood or irritability, impulsive behavior, reduced sleep needs, rapid speech, racing thoughts, inflated self-esteem, and distractibility characterize mania. Individuals with bipolar disorder often alternate between depressive and manic states, with periods of emotional stability lasting an average of six months to a year.
150
01:15Equilibrium and Balance
5.1K
The inner ear assumes dual functionalities of auditory perception and equilibrium maintenance. The vestibule is the organ responsible for balance. This organ contains mechanoreceptors, specifically hair cells, endowed with stereocilia, which aid in deciphering information regarding the position and motion of our heads. Two intrinsic components, the utricle and saccule, help perceive head position, while the semicircular canals track head movement. Neurological messages initiated in the...
5.1K
01:23Cystic Fibrosis: Pathogenesis
369
Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
369