Title

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

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