Ann Clin Transl Neurol
November 2024
Objective: Approximately 7% of individuals with dystrophinopathy remain undiagnosed at the genetic level using conventional genetic tests like multiplex ligation-dependent probe amplification (MLPA) and next-generation sequencing (NGS). We used the optical genome mapping (OGM) technology to detect and analyze uncommon mutations or structural variations (SVs) within the DMD gene, thus contributing to more precise clinical diagnoses.
Methods: We herein included eight patients with dystrophinopathy (six males and two females) in whom pathogenic variants of the DMD gene could not be accurately identified using MLPA and NGS.
Background: Tuberous sclerosis is a multi-system disorder caused by mutations in either or . The majority of affected patients (85%-90%) have heterozygous variants, and a smaller number (around 5%) have mosaic variants. Despite using various techniques, some patients still have "no mutation identified" (NMI).
View Article and Find Full Text PDFBackground: Despite substantial resources deployed to curb SARS-CoV-2 transmission, controlling the COVID-19 pandemic has been a major challenge. New variants of the virus are frequently emerging leading to new waves of infection and re-introduction of control measures. In this study, we assessed the effectiveness of containment strategies implemented in the early phase of the pandemic.
View Article and Find Full Text PDF