Expert opinion and caution are imperative for interpretation of next generation sequencing data.
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.
Eur J Med Genet
Carrier Proteins; Expert Testimony; Female; Hereditary Central Nervous System Demyelinating Diseases; High-Throughput Nucleotide Sequencing; Humans; Magnetic Resonance Imaging; Mutation; RNA Polymerase III; Sequence Analysis, DNA
4H leukodystrophy; POLR3-related leukodystrophy; POLR3A; Whole exome sequencing
Thiffault I, Bernard G. Expert opinion and caution are imperative for interpretation of next generation sequencing data. Eur J Med Genet. 2016;59(10):519-521. doi:10.1016/j.ejmg.2016.08.002