biostudies-literatureUnknown14Perrier S<h4>Introduction</h4>Rare neurodevelopmental disorders, including inherited white matter disorders or leukodystrophies, often present a diagnostic challenge on a genetic level given the large number of causal genes associated with a range of disease subtypes. This study aims to demonstrate the challenges and lessons learned in the genetic investigations of leukodystrophies through presentation of a series of cases solved using exome or genome sequencing.<h4>Methods</h4>Each of the six patients had a leukodystrophy associated with hypomyelination or delayed myelination on MRI, and inconclusive clinical diagnostic genetic testing results. We performed next generation sequencing (case-based exome or genome sequencing) to further investigate the genetic cause of disease.<h4>Results</h4>FollowiFrontiers in neurology1148377https://www.ebi.ac.uk/biostudies/studies/S-EPMC10108901biostudies-literatureSolving inherited white matter disorder etiologies in the neurology clinic: Challenges and lessons learned using next-generation sequencing.PMC10108901Tran LTSylvain MLegault GDorman JMichell-Robinson MADemos MKohler WPerrier SBrais BPastinen TThiffault IGuerrero KBernard GfalseSolving inherited white matter disorder etiologies in the neurology clinic: Challenges and lessons learned using next-generation sequencing.<h4>Introduction</h4>Rare neurodevelopmental disorders, including inherited white matter disorders or leukodystrophies, often present a diagnostic challenge on a genetic level given the large number of causal genes associated with a range of disease subtypes. This study aims to demonstrate the challenges and lessons learned in the genetic investigations of leukodystrophies through presentation of a series of cases solved using exome or genome sequencing.<h4>Methods</h4>Each of the six patients had a leukodystrophy associated with hypomyelination or delayed myelination on MRI, and inconclusive clinical diagnostic genetic testing results. We performed next generation sequencing (case-based exome or genome sequencing) to further investigate the genetic cause of disease.<h4>Results</h4>Followi2023-01-01T00:00:00Z20232025-04-18T20:53:24.272Z2024-11-20T08:02:28.507ZS-EPMC101089013707756410.3389/fneur.2023.1148377