Expert opinion and caution are imperative for interpretation of next generation sequencing data.

Authors :: Thiffault I
Bernard G
Source :: European journal of medical genetics [Eur J Med Genet] 2016 Oct; Vol. 59 (10), pp. 519-21. Date of Electronic Publication: 2016 Aug 12.
Publication Year :: 2016
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.<br /> (Copyright © 2016 Elsevier Masson SAS. All rights reserved.)

Subjects :: Female
Hereditary Central Nervous System Demyelinating Diseases diagnostic imaging
Hereditary Central Nervous System Demyelinating Diseases physiopathology
High-Throughput Nucleotide Sequencing
Humans
Magnetic Resonance Imaging
Mutation
Sequence Analysis, DNA
Carrier Proteins genetics
Hereditary Central Nervous System Demyelinating Diseases genetics
RNA Polymerase III genetics

Full Text Access

Tools