Neurol Genet 2021 Feb 17;7(1):e539. Epub 2020 Dec 17.
Division of Neurology and Developmental Neuroscience (D.G.C., D.T., L.F., K.P., L.T.E., H.-T.C.), Department of Pediatrics, BCM, Houston, TX; Texas Children's Hospital (D.G.C., D.T., L.F., K.P., L.T.E., H.-T.C.), Houston, TX; Department of Neurology and Neurotherapeutics (M.H.), UTSW, Dallas, TX; Department of Molecular and Human Genetics (L.T.E., H.-T.C.), BCM, Houston, TX; Department of Neuroscience (H.-T.C.), BCM, Houston, TX; Program in Development (H.-T.C.), Disease Models, and Therapeutics, BCM, Houston, TX; McNair Medical Institute (H.-T.C.), The Robert and Janice McNair Foundation, Houston, TX; and Jan and Dan Duncan Neurological Research Institute (H.-T.C.), Texas Children's Hospital, Houston, TX.
Objective: To demonstrate that de novo missense single nucleotide variants (SNVs) in cause a neurodevelopmental disorder with leukoencephalopathy resembling Pelizaeus-Merzbacher disease (PMD).
Methods: A retrospective chart review was performed of 2 unrelated males evaluated at a single institution with de novo SNVs identified by clinical exome sequencing (ES). Clinical and radiographic data were reviewed and summarized. Read More