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Sensitive quantitative detection of somatic mosaic mutation in “double cortex” syndrome Volume 19, issue 4, December 2017

Figure 1

LIS1 mutation detected by ddPCR in an Australian patient with “double cortex” syndrome. (A) Brain MRI of the Australian patient showing a coronal view of normal cortex (black arrow) and bilateral posterior subcortical band heterotopia (red arrow). (B) ddPCR read-out showing droplets positive (blue) for K64X mutant probe in brain- and saliva-derived DNA from the patient. Droplets positive for wild-type probe are green and droplets without DNA template are grey. NTC: no template control; 7354-5: saliva; ANON34: healthy control blood-derived DNA; 7354-12: temporal lobe-derived brain DNA run in duplicate.

Figure 2

LIS1 mutation detected by pyrosequencing using blood- and saliva-derived DNA. Pyrosequencing assay results show detection of the mutant p.K64X allele in blood (A) and saliva (B), but not in brain (C). The c.190 wild-type (A) and mutant (T) allele are shown in the shaded box. N.a.=no call.