PMC3890717_01
Pedigree chart, homozygosity mapping, and capillary sequencing. A. The patient was born to consanguineous parents who were first cousins. No other members of the family have exhibited the same symptoms. B. Black bar indicates IBD. Relatively long segments of IBD exist on chromosomes 3, 17, and 21. C. Patient has a homozygous nonsense mutation of TTC19 (c.829C > T, p.Q277*).
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F1
We performed exome sequencing on a Japanese woman born to consanguineous parents who were first cousins (Figure 1A).
Brain MRI. Left is T1 weighted sagittal image, and right is T2 weighted axial image. Cerebellar atrophy was observed. Bilateral inferior olives showed T2 high intensity (arrowheads).
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F2
Head MRI showed cerebellar atrophy and T1 low/T2 high intensity at the bilateral inferior olives at the age of 33 (Figure 2).