biostudies-literatureDong LCAMS Innovation fund for Medical Sciencesstrategic priority research program (pilot study) “Biological basis of aging and therapeutic strategies” of the Chinese Academy of SciencesNational Natural Science Foundation of Chinastrategic priority research program (pilot study) "Biological basis of aging and therapeutic strategies" of the Chinese Academy of SciencesNational Key Research and Development Program of China155https://www.ebi.ac.uk/biostudies/studies/S-EPMC10658925biostudies-literatureUnknown49(1)<h4>Background</h4>The pediatric genetic white matter disorders are characterized by a broad disease spectrum. Genetic testing is valuable in the diagnosis. However, there are few studies on the clinical and genetic spectrum of Chinese pediatric genetic white matter disorders.<h4>Methods</h4>The participants were enrolled from the cohort of Peking Union Medical College Hospital. They all received history collection, brain MRI and gene sequencing. Their neurologic complaints which were related to white matter disorders occurred before 18. Brain MRI indicated periventricular and/or deep white matter lesions, fazekas grade 2-3.<h4>Results</h4>Among the 13 subjects, there were 11 males and two females. The average age of onset was 10.0 ± 5.5 years old. The potential genetic variants were foundItalian journal of pediatricsGenotypic and phenotypic heterogeneity among Chinese pediatric genetic white matter disorders.PMC1065892581550021 and 30470618XDPB102020YFA0804500 and 2016YFC13063002021-1-I2M-1-020Chu SMao CCui LShang LPeng BHuang XDong LGao JLiu CfalseGenotypic and phenotypic heterogeneity among Chinese pediatric genetic white matter disorders.<h4>Background</h4>The pediatric genetic white matter disorders are characterized by a broad disease spectrum. Genetic testing is valuable in the diagnosis. However, there are few studies on the clinical and genetic spectrum of Chinese pediatric genetic white matter disorders.<h4>Methods</h4>The participants were enrolled from the cohort of Peking Union Medical College Hospital. They all received history collection, brain MRI and gene sequencing. Their neurologic complaints which were related to white matter disorders occurred before 18. Brain MRI indicated periventricular and/or deep white matter lesions, fazekas grade 2-3.<h4>Results</h4>Among the 13 subjects, there were 11 males and two females. The average age of onset was 10.0 ± 5.5 years old. The potential genetic variants were found2023-01-01T00:00:00Z2023 Nov2026-07-15T00:22:03.681Z2025-04-20T01:05:00.053ZS-EPMC106589253798168410.1186/s13052-023-01555-z