Identification of the DNA Methylation Signature of Mowat-Wilson Syndrome

Medicine, Pediatrics, Medical Laboratory Science, Neurology, Life Sciences, Biochemistry, Genetics,
Mowat-Wilson Syndrome   ZEB2   DNA Methylation   Neurodevelopmental Disorder   Biomarker   Genetics   Transcription Factor  

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...

Identification of People with Lynch Syndrome from Those Presenting with Colorectal Cancer in England: Baseline Analysis of the Diagnostic Pathway

Medicine, Oncology, Cardiovascular System,
Lynch Syndrome   Colorectal Cancer   Molecular Diagnostics   National Health Service   England   DNA Mismatch Repair  

Analysis of Lynch Syndrome Diagnostic Pathway Introduction Lynch Syndrome (LS) is a hereditary cancer susceptibility syndrome that primarily leads to the occurrence of colorectal cancer (CRC), endometrial cancer, and several other types of cancer. Although the incidence of Lynch Syndrome among cancer patients and its importance to public health hav...

Loss of TBC1D2B Causes a Progressive Neurological Disorder with Gingival Overgrowth

Medicine, Oral Sciences, Neurology, Life Sciences, Cell Biology, Biochemistry, Genetics,
TBC1D2B gene   neurological disorder   gingival overgrowth   genetic syndrome   autophagy defect   neurodegenerative disease  

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...

Experiences of Pediatric Cancer Patients with Extensive Germline Sequencing for Cancer Predisposition: A Qualitative Study

Medicine, Oncology, Life Sciences, Genetics,
Pediatric Oncology   Germline Sequencing   Genetic Predisposition   Adolescent Cancer Patients   Qualitative Study  

Qualitative Study Report on the Experience of Extensive Germline Sequencing in Children with Cancer Aged 12-18 Background Introduction With the development of genetic sequencing technology, germline DNA sequencing has gradually become a routine practice in pediatric cancer care. Recent studies estimate that about 10% of children with cancer have ge...

A 39 kb Structural Variant Causing Lynch Syndrome Detected by Optical Genome Mapping and Nanopore Sequencing

Medicine, Oncology, Life Sciences, Genetics,
Lynch syndrome   optical genome mapping   nanopore sequencing   structural variant   hereditary cancer   mismatch repair genes   founder event  

Detection of a 39 kb structural variant causing Lynch syndrome using optical genome mapping and nanopore sequencing Research Background Lynch syndrome (LS) is a hereditary cancer syndrome primarily caused by pathogenic germline variants in four genes of the MMR (mismatch repair) gene family: MLH1, MSH2, MSH6, and PMS2. This syndrome is characterize...

Evidence for the Additivity of Rare and Common Variant Burden Throughout the Spectrum of Intellectual Disability

Medicine, Neurology, Life Sciences, Genetics,
Intellectual disability   Rare variants   Common variants   Genetic factors   Cognitive function   Finnish study  

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...