Development and validation of a one-step SMN assay for genetic testing in spinal muscular atrophy via MALDI-TOF MS

• Published in: Analyst (London) Vol. 150; no. 1; pp. 142 - 153
• Main Authors: Xing, Xiaodong, Ji, Xing, Liu, Xinzhu, Jin, Xiaohui, He, Zhenglei, Xu, Ajing, Jiang, Wengao, Ji, Wenbo, Liu, Yan, Zhang, Jian, Huang, Xiaohui
• Format: Journal Article
• Language: English
• Published: England Royal Society of Chemistry 16.12.2024
• Subjects: Assaying; Atrophy; Combinatorial analysis; Cost effectiveness; DNA Copy Number Variations; Exons - genetics; Genetic Testing - methods; Humans; Muscular Atrophy, Spinal - diagnosis; Muscular Atrophy, Spinal - genetics; Mutation; Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization - methods; Survival of Motor Neuron 1 Protein - genetics; Survival of Motor Neuron 2 Protein - genetics

Spinal muscular atrophy (SMA) is a fatal neuromuscular disorder primarily attributed to the homozygous deletion of the survival motor neuron 1 ( SMN1 ) gene, with disease severity closely correlated to the copy number variations (CNV) of SMN2 . Conventional methodologies, however, fail to provide a...