PMC5861145_01
MRI images. MRI images (1.5 tesla): (A,B) Sagittal sections in the T1-weighted MRI images: global cerebellar atrophy with a marked enlargement of the subarachnoid space, thinning of cerebellar folds and vermis (arrow) related to diffuse cerebellar atrophy. (C) Axial section in the T1 sequence: cerebral white matter and ventricles without alterations.
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F1
The patient underwent several annual follow-up MRI examinations; the last MRI examination at age 53 years did not show any additional findings (Figure 1). At age 54 years, the patient had a height of 161 cm, a weight 67 kg, a body mass index of 24.7, and a head circumference of 56 cm; her facial appearance and phenotype were normal (Supplementary Figure 1).
NSD1 gene sequencing. Exon 2 sequence of the NSD1 gene (superior: normal; inferior: patient sequence) showing the deletion of adenine (blue arrow) at position 247 (c.247delA), which has an effect on the protein and generates a premature stop codon at amino acid 87 (red box).
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F2
A likely pathogenic variant was found in the heterozygous state, c.247delA (p.N83MfsX4), which led to a premature stop codon at amino acid 87 (Figure 2).