A Missense Variant in AIFM1 Caused Mitochondrial Dysfunction and Intolerance to Riboflavin Deficiency

Missense Mutation in AIFM1 Gene Leads to Mitochondrial Dysfunction and Riboflavin Deficiency Intolerance Research Background Mitochondria are double-membrane organelles found in eukaryotic cells with nuclei, primarily producing adenosine triphosphate (ATP) through oxidative phosphorylation to provide cellular energy. Mitochondria have their own gen...

Limitations in Next-Generation Sequencing-Based Genotyping of Breast Cancer Polygenic Risk Score Loci

Limitations of Next-Generation Sequencing-Based Genotyping for Breast Cancer Polygenic Risk Score Loci Background Introduction In the prediction of hereditary Breast Cancer (BC), Polygenic Risk Scores (PRSs) are increasingly being used as an important tool for individual risk prediction. The calculation of PRS relies on accurately reproducing varia...

Study on GABRA4 Gene Mutations and Neurological Phenotypes

New Scientific Research Reveals Association Between GABRA4 Gene and Neurological Phenotypes Research Background In recent years, significant progress has been made in the study of epilepsy and developmental disorder syndromes associated with single gene mutations. GABAA receptors (gamma-aminobutyric acid sub-type A receptors, GABAARs) are heterogen...

Upstream Open Reading Frame-Introducing Variants in Patients with Primary Familial Brain Calcification

Research Background and Problem Statement Primary Familial Brain Calcification (PFBC) is a rare neurological disorder characterized by microvascular calcification in the basal ganglia and other brain regions. Although at least six genes associated with PFBC have been identified (including SLC20A2, XPR1, PDGFB, PDGFRB, MYORG, and JAM2), the pathogen...

Widespread Exclusive Yin Yang Haplotypes in the Human Genome

Unique Yin Yang Haplotypes Widely Present in the Human Genome Research Background In genomic studies, yin yang haplotypes refer to pairs of haplotypes that differ at every site. While previous independent reports have indicated the existence of unique yin yang haplotypes, no systematic search had been conducted. Therefore, to better understand the ...

Genome, HLA and Polygenic Risk Score Analyses for Prevalent and Persistent Cervical Human Papillomavirus (HPV) Infections

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...

Loss-of-function mutation of the ADNP gene causes Helsmoortel-van der Aa syndrome

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 Heterogeneity in Hereditary Hearing Loss: Potential Role of Kinociliary Protein TOGARAM2

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...

Identification of the DNA Methylation Signature of Mowat-Wilson Syndrome

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...

Loss of TBC1D2B Causes a Progressive Neurological Disorder with Gingival Overgrowth

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...