Fig. 2 | Journal of Human Genetics

Fig. 2

From: Homozygosity for a nonsense variant in AIMP2 is associated with a progressive neurodevelopmental disorder with microcephaly, seizures, and spastic quadriparesis

Fig. 2

A Pedigree of family 2. B Sanger validation of the AIMP2 variant in family 2. The variation c.105C>A of AIMP2 is found in homozygous state in probands and is heterozygous in their parents. C P3 at age 6 years shows microcephaly, contractures at knees and ankles, and kyphoscoliosis. D T2-weighted magnetic resonance imaging of brain done at 4 years of age shows cerebral atrophy, cerebellar atrophy, hypo-intensities in the bilateral basal ganglia on T2-weighted sequences (arrows in D(i)), prominent cisterna magna, and thinning of corpus callosum (D(ii)) and spinal cord

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