Fig. 2: Clinical features of affected individuals. | Genetics in Medicine

Fig. 2: Clinical features of affected individuals.

From: A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features

Fig. 2

(a) Facial appearance of affected individuals. (b) Representative brain abnormalities on magnetic resonance image (MRI). See Table S2 for summary of imaging findings. (c) EMC10 RNA expression relative to ACTB in blood from affected individual and unaffected parent. Single-sided t-test *p < 0.01, **p < 0.005. (d) EMC10 RNA expression relative to ACTB in induced pluripotent stem cells (iPSC)-derived neurons from individual heterozygous for EMC10 variant, and related individual without the variant. Both individuals are relatives of family 2 (pedigree in Fig. S1). Single-sided t-test **p < 0.005. (e) Sanger sequencing traces from DNA and RNA (complementary DNA [cDNA]) from an individual heterozygous for the reported EMC10 variant. The DNA sequencing trace is displayed as reverse complement. (f) Proteasome inhibition by MG-132 rescues expression of V5-tagged truncated EMC10287delG in a time-dependent manner. (g) EMC10 protein (red) is observed primarily in neurons in primary tissue from human brain. Neurons are marked by nuclear membrane staining for NeuN (magenta) or non-nuclear staining for MAP2 (green). EMC10 colocalizes with neuronal markers MAP2 and NeuN.

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