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...
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...
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...
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...
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...
Exploring XIST Silencing and Repressor Factors on the X Chromosome in Early Human and Bovine Embryos Research Background X chromosome inactivation is a dosage compensation mechanism in mammals, aimed at balancing the expression of X-linked genes between females and males. The XIST gene locus can trigger transcriptional silencing of the additional X...
Gemin5 Gene Mutation-Related Coenzyme Q10 Deficiency: Long-term Follow-up After Treatment Background Gemin5 is a highly conserved multifunctional protein that mainly functions in assembling small RNA-protein complexes in the cytoplasm and participates in the splicing process of pre-mRNA to generate mature mRNA. Previous studies have reported a seri...
Instant Inclusion: In-depth Analysis of Uncertainties Experienced by Parents of Newborns with Severe Combined Immunodeficiency Research Background Severe Combined Immunodeficiency (SCID) is a rare and potentially fatal genetic disorder. Without timely diagnosis and treatment, patients face life-threatening conditions. In recent years, early identif...