Figure 2: Pedigrees of affected individuals with available family information. Analysis of possible segregation of the respective mutation in family members could be performed for index subject 2 and for 19 of 27 mutation carriers in cohorts II and III where DNA samples were available from family members. The respective GRIN2A mutation segregated with a variable phenotype of seizures, pathologic EEG patterns and/or intellectual disability in family members. A few individuals carried the familial mutation but did not present any clinical features, indicating incomplete penetrance of the mutations or mosaicism. However, subclinical phenotypes (for example, EEG patterns) have not been investigated in these individuals. Pedigree 87-4 suggests phenocopy in the proband's brother. WT, wild type.
Image published in: Lemke JR et al. (2013)
Copyright © 2013. Image reproduced with permission of the Publisher.
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