Table 1. Phenotype and Mutations found in CTE Patients.
Nucleotide and amino acid coordinates are given assuming the A of the ATG translation initiation codon is nucleotide 1. The normal control frequency refers to the number of times an indicated nucleotide change was found in the indicated number of control DNA samples analyzed. Parenteral nutrition requirement reflects percentage of total caloric intake provided parenterally.
| Patient | Ethnicity | Age at Diagnosis | Current Age | Known Consanguinity | Variant in EpCAM | Normal Control Frequency |
|---|---|---|---|---|---|---|
| P1 | Mexican American | 14 months | 3.5 yrs | None* | c.491+1G>A | 0/200 |
| P2 | Mexican American | 11 months | 2.5 yrs | None* | c.491+1G>A | 0/200 |
| P3 | Native Canadian | 1 year | 12 yrs | Great Grandparents were siblings | c.427−1G>A | 0/171 |
| P4 | Russian | 2 months | 5 yrs | None | c. 200G>A | 0/171 |
| P5 | English/Italian | 4 months | 20 yrs | None | None | N/A |