Table 1.
Patient clinical data
| Family / patient |
Sex | Consanguinity | Ancestry | Age at presentation |
Features at presentation |
CSF white cell count* |
CSF IFN (IU/ml) (age)† |
CSF pterins [age]†† |
Status (age) | Calcification | Leukodystrophy | Developmental level |
Nucleotide alteration# |
Amino Acid alteration |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1_P1 | F | No | Spanish | 4wk | SP, PF, DD | “Raised” | 18 (18mo) | nr | Alive (12yr) | Yes | Yes | Severe delay | c.75C>T het + c.704G>A het |
p.Arg25Arg + p.Arg235Gln |
| 1_P2** | F | No | Spanish | 2wk | SP, PF, DD | “Raised” | nr | nr | Alive (12yr) | nr | Yes | Severe delay | c.75C>T het + c.704G>A het |
p.Arg25Arg + p.Arg235Gln |
| 2 | F | No | Belgian | 4mo | DD | 38 (4mo) | nr | nr | Alive (7yr) | Yes | Yes | Severe delay | c.75C>T hom | p.Arg25Arg (Hom) |
| 3 | M | No | Italian | Birth | PF, DD | 86 (4mo) | 200 (4mo) | T 110 (20–70) N 2000 (15–35)[4mo] |
Died (3yr 6mo) | Yes | Yes | Severe delay | c.69G>A het + c.556C>T het |
p.Val23Val + p.Arg186Trp |
| 4 | M | No | White US | Birth | PF, DD | 5 (17mo) | nr | T 66 (20–58) N 170 (7–65)[17mo] |
Alive (11yr) | Yes | Yes | Severe delay | c.69G>A het + c.635A>T het |
p.Val23Val + p.Asn212Ile |
SP Spasticity, PF Poor feeding, DD Developmental delay, nr Not recorded, wk Week, mo Month,
*
Abnormal >5 cells/mm3,
†
Normal levels <2 IU/ml,
††
T Tetrahydrobiopterin, N Neopterin values (normal range),
**
this sibling was not analysed in the present study.
#
GenBank reference sequence: NM_006397.2. Nucleotide numbering reflects cDNA numbering with +1 corresponding to the A of the ATG translation initiation codon in the reference sequence. The initiation codon is codon 1.