PMC5823686_01
(a) CT scan of the lung of the proband. Two residual pulmonary AVMs (arrows), and only one right lung (left-sided pneumonectomy due to severe pulmonary AVM at age 10). (b) Pulmonary angiography of the mother, with one large PAVM just prior to embolization. (c) The face of the mother at age 76, with few but typical telangiectatic lesions
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At the same time oxygen saturation was 93% and a single large PAVM was diagnosed and embolized (Figure 1b), which resulted in an oxygen saturation increase to 99%. CT scan. Clinical examination, at age 76, revealed few, but typical telangiectatic lesions (Figure 1c). In DNA from cheek swabs c.704dupC was identified in 257 of 2,285 reads representing mutational mosaicism of 11% (Figure 2 and Table 1).
(a) Sanger sequence. Lower two rows forward and reverse sequence from the proband. Upper two lanes sequence of DNA extracted from maternal blood. (b) NGS panel. Lower row sequence from the proband. Upper two lanes sequence of DNA extracted from maternal blood (top) and cheek swab (middle)
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In DNA from cheek swabs c.704dupC was identified in 257 of 2,285 reads representing mutational mosaicism of 11% (Figure 2 and Table 1).