In recent years, research on Neurodevelopmental Disorders (NDDs) has uncovered numerous genetic variants associated with NDDs, ranging from Single Nucleotide Variants (SNVs) to large structural changes (such as chromosomal rearrangements). Against this research background, Edoardo Errichiello, Mauro Lecca, Chiara Vantaggiato, and other researchers ...
DNA methylation analysis in Kabuki syndrome: reclassification of germline KMT2D variants Background Kabuki syndrome (KS) is a rare multiple congenital anomaly/neurodevelopmental disorder caused by heterozygous inactivating variants or structural rearrangements in the KMT2D gene. Although KS is recognizable due to its distinctive facial features, di...
Based on the research of Helsmoortel-Van der Aa syndrome (HVDAS) caused by ADNP gene mutations, D’Incal et al. published an in-depth research paper in the European Journal of Human Genetics. Through a case study of a five-year-old girl, the team discovered a three-base pair deletion at the splice acceptor site of the first coding exon of ADNP. This...
DNA Methylation Characteristics for Recognizing Mowat-Wilson Syndrome Background Mowat-Wilson syndrome (MOWS) is a rare neurodevelopmental disorder caused by heterozygous deletions or loss-of-function mutations in the ZEB2 gene. This gene encodes a transcription factor involved in neural development. Individuals with MOWS often present with moderat...
Progressive neurological disease with gingival hyperplasia due to TBC1D2B gene deficiency Background Introduction In recent years, with the rapid development of genomic technologies, scientists have gained deeper insights into the relationship between genetic variations and human diseases. Increasingly, research has revealed the important role thes...
Additive Evidence of Rare and Common Variant Burden Across the Spectrum of Intellectual Disability Severity Academic Background Intellectual Disability (ID) is a common condition with a range of severity from mild to profound. Mild ID is often viewed as the lower end of the intelligence distribution, while severe ID is typically considered a monoge...
Blue Autofluorescence Generated by Aβ Aggregation Illuminates Senile Plaques and Complex Blood and Vascular Pathologies in Alzheimer’s Disease Research Background Alzheimer’s disease (AD) is a widespread neurodegenerative disorder globally, with senile plaques being the main pathological hallmark of AD, primarily composed of β-amyloid protein (Aβ)....
Smart Independent Component Analysis (SMART ICA): An Innovative Method for Extracting Accurate Brain Functional Networks Background Introduction In brain science research, Functional Networks (FNs) show great potential for understanding human brain function by exploring the integration and interaction relationships between different brain regions. ...
In the field of neuroscience, synaptic organization and plasticity are crucial for cognitive functions such as memory and social behavior. As rare synaptic inhibitory factors, members of the family known as MAM domain-containing glycosylphosphatidylinositol anchor proteins (MDGA) play an important regulatory role in synapse formation by inhibiting ...
New Gene Therapy Approach May Control Epileptic Seizures Caused by Focal Cortical Dysplasia Focal Cortical Dysplasia (FCD) is a type of disorder caused by abnormal cortical development, often accompanied by drug-resistant epilepsy and cognitive and behavioral disorders. According to the classification criteria proposed by Najm et al. in 2022 for th...