title: Expert opinion and caution are imperative for interpretation of next generation sequencing data.
abstract: We comment on the recent publication by Khalifa and Naffa who are reporting a young girl with variants in both WDR45 and POLR3A, which they state contribute to her clinical manifestations. We are arguing in this letter that the clinical, MRI, and genetics findings are not compatible with 4H leukodystrophy and that this patient is not affected by this condition.
authors.affiliation: Children's Mercy Kansas City, Center for Pediatric Genomic Medicine, Kansas City, MO, USA; University of Missouri-Kansas City School of Medicine, Kansas City, MO, USA.
authors.forename: Isabelle
authors.initials: I
authors.lastname: Thiffault
authors.affiliation: Departments of Neurology and Neurosurgery and Pediatrics, McGill University, Montreal, Canada; Department of Medical Genetics, Montreal Children's Hospital, McGill University Health Center, Montreal, Canada; Child Health and Human Development Program, Research Institute of the McGill University Health Center, Montreal, Canada. Electronic address: genevieve.bernard@mcgill.ca.
authors.forename: Geneviève
authors.initials: G
authors.lastname: Bernard
mesh_terms: D002352:Carrier Proteins / Q000235:genetics*; D005260:Female; D020279:Hereditary Central Nervous System Demyelinating Diseases / Q000000981:diagnostic imaging / Q000235:genetics* / Q000503:physiopathology; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D008279:Magnetic Resonance Imaging; D009154:Mutation; D012320:RNA Polymerase III / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: D002352:Carrier Proteins; C578284:WDR45 protein, human; C585825:POLR3A protein, human; D012320:RNA Polymerase III
keywords: 4H leukodystrophy; POLR3-related leukodystrophy; POLR3A; Whole exome sequencing