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Figure 1 | Orphanet Journal of Rare Diseases

Figure 1

From: EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations

Figure 1

Ventral pons/tegmentum ratios in PCH patients. On midsagittal MR images, surfaces of ventral pons and pontine tegmentum were defined as shown in Figure A. Patients with a homozygous p.D132A mutation in EXOSC3 (n=3) present a pons/tegmentum ratio comparable to controls (n=23, age neonatal to 11y). Patients with a homozygous p.G31A mutation (n=5), a p.D132A mutation plus a nonsense or p.Y109N allele (n=4) or a homozygous p.G135E mutation (n=1) show a decreased ratio, approaching that seen in patients with a p.A307S mutation in the TSEN54 gene (n=6) (B). Three-dimensional images were constructed of the pons, tegmentum and part of the medulla. The reconstructions show an attenuated pons in a patient 5-I (C, homozygous p.G31A mutation) and patient 8 (E, p.D132A plus large deletion) compared to patient 7-I (D, homozygous p.D132A) or a control subject (F). Scale bar in C-F=1cm. VP=ventral pons; T=tegmentum.

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172