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. 2020 Jun 11;14:644. doi: 10.3389/fnins.2020.00644

FIGURE 1.

FIGURE 1

Family tree, genetic studies, WOREE-associated clinico-radiological features, Wwox protein and WOREE-associated mutations. (A) Pedigree from Family. (B) Electropherograms of carrier parents and index case (II.1) with the c.790C > T homozygous variant introducing a p.Arg264Ter stop codon. (C) Homozygosity mapping reveal a homozygous bloc in the WWOX gene 16q23.2 region. (D) Distinctive craniofacial features in WOREE syndrome due to homozygous p.Arg264Ter variant, including round hypotonic face and short neck. (E) Brain MRI of Patient II.1 performed at 2.4 years of age. (E’) Sagittal T1-weighted image reveals hypoplasia of the corpus callosum (empty arrow) and inferior cerebellar vermis (arrowhead). (E”) Axial T2-weighted images demonstrates mild atrophy of the frontal lobes with associated bilateral white matter hyperintensity (arrows). (F) Fetal MRI (F’) and high-resolution post-mortem MRI (F”) studies of Patient II.3 performed at 21 gestational weeks demonstrate mild hypoplasia of the cerebellar vermis (black arrows). Note the slightly increased thickness of nuchal subcutaneous tissues on fetal MRI (white arrow). The laminar organization of the cerebral hemispheres and cortical gyration are appropriate for the gestational age (not shown). (G) Wwox protein structure and domains and WOREE-associated mutations identified so far.