Table 1.
Clinical and molecular findings
| Patient | I | II | III | IV | |||
|---|---|---|---|---|---|---|---|
| Sex | F | M | F | F | |||
| Age at definite diagnosis (mo) | 1 | 21 | 6 | 1 | |||
| Age at last visit (mo) | 51 | 36 | 16 | 5 | |||
| Development | normal | delayed | normal | normal | |||
| Mutated gene | PAH | PTS | PTS | PTS | PTS | PAH | PAH |
| Genomic position (hg19) | 12:103,248,934 | 11:112,099,388 | 11:112,101,362 | 11:112,103,916 | 11:112,104,166 | 12:103,234,294 | 12:103,249,009 |
| dbSNP ID | novel | rs104894275 | rs370340361 | novel | novel | known [18] | rs62514927 [30] |
| Zygosity | homozygous | compound het | compound het | compound het | compound het | compound het | compound het |
| Reference allele (REF) | – | A | C | A | A | C | T |
| Alternate allele (ALT) | T | G | T | C | G | G | C |
| No. reads with REF in proband | 0 | 25 | 55 | 21 | 14 | 114 | 55 |
| No. reads with ALT in proband | 51 | 31 | 46 | 16 | 5 | 101 | 33 |
| Mutation type | frameshift ins | missense | missense | missense | missense | splice acceptor | exonic splicing enhancer |
| cDNA change | c.686_687insA | c.155A > G | c.200C > T | c.274A > C | c.326A > G | c.1200-1G > C | c.611A > G |
| Protein change | p.Asp229Glufs*54 | p.Asn52Ser | p.Thr67Met | p.Asn92His | p.Asn109Ser | N/A | p.Tyr204Cys |
| Prediction SIFT | N/A | damaging | damaging | damaging | damaging | N/A | damaging |
| Prediction PROVEAN | N/A | deleterious | deleterious | deleterious | deleterious | N/A | neutral |