Expert opinion and caution are imperative for interpretation of next generation sequencing data.
Document Type
Article
Publication Date
10-1-2016
Identifier
DOI: 10.1016/j.ejmg.2016.08.002
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.
Journal Title
Eur J Med Genet
Volume
59
Issue
10
First Page
519
Last Page
521
MeSH Keywords
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
Keywords
4H leukodystrophy; POLR3-related leukodystrophy; POLR3A; Whole exome sequencing
Recommended Citation
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
COinS
