Table 1.
Summary of the CIAS1 mutations identified*
| Patient | CIAS1 mutations |
CIAS1 mutations in the parents |
Frequency of CIAS1 mutations in controls |
||
|---|---|---|---|---|---|
| Exon | Nucleotide | Amino acid | |||
| 997 | 3 | 791 T→A | L264H | ND | 0/916 |
| 922 | 3 | 907 G→A | D303N | Negative | 0/1,126 |
| 986 | 3 | 1121 C→A | A374N | Negative | 0/972 |
| 987 | 3 | 1709 A→G | Y570C | ND | 0/936 |
| 975 | 3 | 1569 C→A | F523L | Negative | 0/936 |
| 996 | 3 | 1569 C→G | F523L | Negative | 0/936 |
*
A total of 6 CIAS1 mutations were identified in the 13 study patients. The control frequency represents the number of chromosomes examined in healthy unrelated control subjects. ND = not done.