Novel TMEM63A mutation associated with transient hypomyelination of infancy - lessons from a previously negative whole-exome sequencing case: Three case reports

Figure 1 Sanger sequencing electropherograms demonstrating segregation of the novel TMEM63A variant in the family. Electropherograms showing the heterozygous TMEM63A c.146G>T (p.Gly49Val) variant identified in affected individuals (III-2, III-3, III-4) and carrier relatives (I-2, II-2, II-3). The arrow indicates the position of the nucleotide substitution. Wild-type sequence is shown for comparison. The color version of this figure is available in the online edition. c: Coding DNA sequence position; p: Protein sequence position; WT: Wild type.

Figure 2 Serial brain magnetic resonance imaging of individuals III-2 and III-3 demonstrating resolution of hypomyelination. A-E: Axial T2-weighted images of individual III-2 at 3 months (A), 17 months (B), and 40 months (C) of age, and of individual III-3 at 4 months (D) and 15 months (E) of age. Initial images (A and D) demonstrate diffuse T2 hyperintensity of the cerebral white matter consistent with hypomyelination. Follow-up imaging (B, C, and E) shows progressive normalization of white matter signal intensity, indicating age-appropriate myelination.