Pathological Study of a New ACTA2 Mutation Causing Aortic Aneurysm: Validation Using a Yeast Model Research Background Thoracic aortic aneurysm and dissection (TAAD) is a potentially fatal vascular disease with mechanisms that are still not fully understood. The ACTA2 gene encodes α-smooth muscle actin, a key component of the vascular smooth muscle...
Genome-wide and Polygenic Risk Score Analysis of High-Risk Human Papillomavirus (hrHPV) Infection in the Cervix Background Cervical high-risk human papillomavirus (hrHPV) infection is the second largest carcinogenic infection globally, accounting for approximately 31.4% of all infection-related cancers (about 690,000 cases out of 2.2 million cancer...
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...
Feasibility Study of Opportunistic Genomic Screening in Pediatric Cancer Patients and Its Family Acceptance Research Background With the development and application of genomic medicine, the care for patients with severe diseases is gradually being optimized. Especially in the field of childhood cancer, whole-genome series DNA testing has become an ...
Discovery of the Recessive Effect of Human Polymerase δ Proofreading Deficiency: Through Mutation Analysis of Normal Cells and Cancer Cells with POLD1 Mutations Background Introduction The disruption of DNA repair is one of the main mechanisms leading to hereditary cancer. Heterozygous pathogenic variants in the exonic regions of POLD1 and POLE aff...
Framework for Evaluation and Reporting of Incidental Findings in Clinical Genome Sequencing Research Background In current clinical practice, clinical genome sequencing (CGS) is gradually becoming an important means for diagnosing rare genetic diseases. However, incidental findings (IFs) are often encountered in genome sequencing, which are unexpec...
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...
Genetic Diversity in Hereditary Hearing Loss: The Potential Role of KINOCILIARY Protein TOGARAM2 Background Hearing Loss (HL) is a feature with multiple causes, and currently, research has identified pathogenic variants in over 200 genes associated with HL. Despite extensive research, the causative factor remains unidentified in more than one-third...
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...