Snijders Blok-Campeau syndrome
What is SBCS?
SBCS is a recently discovered genetic neurodevelopmental disorder, first described in 2018 by clinical researchers Lot Snijders Blok and Philippe Campeau. Individuals with this syndrome typically present with intellectual disability ranging from mild to severe, developmental delay, and speech impairments. Distinctive facial features are commonly observed, including a broad forehead, high hairline, hypertelorism (widely spaced eyes), epicanthal folds, and a broad nasal tip. Other physical characteristics may include heart defects, skeletal anomalies such as scoliosis, and urogenital abnormalities. Behavioral challenges, including autism spectrum disorder traits, attention deficit hyperactivity disorder (ADHD), and anxiety, are also frequently reported in affected individuals.
What are molecular causes of SBCS?
CHD3 gene is located on 17 chromosome, while corresponding mRNA before splicing is about 28,000 base pairs and about 7,400 after. ATPase domain is the most important part of the CHD3 protein, where most mutations are found.
Personalized Prime Editing Therapy Development for CHD3-Related Snijders Blok-Campeau Syndrome
Our research focuses on developing a personalized Prime Editing strategy to precisely correct pathogenic splice-site mutations in the CHD3 gene responsible for Snijders Blok-Campeau syndrome. Using patient-derived induced pluripotent stem cells (iPSCs), cortical neuron models, and advanced genomic and epigenetic validation, we aim to restore normal CHD3 function while ensuring high editing precision and genomic safety.
This platform is designed to establish a reproducible framework for developing personalized gene-editing therapies for CHD3-related disorders and other rare monogenic neurodevelopmental diseases.
So far, it is known that SBCS is caused by de novo mutations in CHD3 gene found in 17th chromosome. CHD3 codes for a chromodomain-helicase-DNA-binding protein 3, involved in histone deacetylation and thus in chromatin remodeling. It is speculated that the lack of CHD3 leads to the delays in expression of important neurodevelopmental genes, that remain unknown. CHD3 is expressed in form of at least three mRNA ca. 7 kbp in length. More research is required to understand the role of CHD3 in pathogenesis.