A copy number variant overlapping the 3ʹUTR of PLP1 causes spastic paraplegia

• Published in: Journal of human genetics Vol. 70; no. 7; pp. 365 - 370
• Main Authors: Alghamdi, Malak, Alharbi, Essa, Aljarallah, Salman, Alghamdi, Ghaida, Balahmar, Reham M., Jado, Nisserin, Hamed, Hebattalah, Jamjoom, Dima, Bashiri, Fahad A., Almontashiri, Naif A. M.
• Format: Journal Article
• Language: English
• Published: Singapore Springer Nature Singapore 01.07.2025; Nature Publishing Group
• Subjects: 3' Untranslated regions; 3' Untranslated Regions - genetics; 45; 45/23; 45/77; 631/208; 692/2489; Adult; Asymptomatic; Biomedical and Life Sciences; Biomedicine; Brief Communication; Cognition; Copy number; DNA Copy Number Variations - genetics; Exome Sequencing; Female; Gene Expression; Gene Function; Gene Therapy; Genetic Predisposition to Disease; Hereditary spastic paraplegia; Human Genetics; Humans; Leukodystrophy; Male; Middle Aged; Molecular Medicine; Myelin; Myelin proteolipid protein; Myelin Proteolipid Protein - genetics; Neurodegeneration; Next-generation sequencing; Paralysis; Paraplegia - genetics; Pedigree; Pelizaeus-Merzbacher disease; Regulatory sequences; Spastic Paraplegia, Hereditary - genetics; Spasticity; Substantia alba; Whole genome sequencing

Leukodystrophy presents a significant diagnostic challenge due to its varied clinical presentation and similarity to other myelin disorders, characterized by abnormalities in myelin and white matter. Hypomyelination disorders, including Pelizaeus-Merzbacher disease (PMD) and hereditary spastic parap...