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

Isabelle Thiffault; Geneviève Bernard

doi:10.1016/j.ejmg.2016.08.002

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

Eur J Med Genet. 2016 Oct;59(10):519-21. doi: 10.1016/j.ejmg.2016.08.002. Epub 2016 Aug 12.

Authors

Isabelle Thiffault¹, Geneviève Bernard²

Affiliations

¹ 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.
² 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.

PMID: 27535217
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.

Keywords: 4H leukodystrophy; POLR3-related leukodystrophy; POLR3A; Whole exome sequencing.

Publication types

Letter

MeSH terms

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

Substances

Carrier Proteins
WDR45 protein, human
POLR3A protein, human
RNA Polymerase III