TABLE 1.
Pathogenic DBH variants reported in patients with DBH‐deficiency
| NR | Location | DNA (NM_000787.4) | Protein (NP_000778.3) | Reference |
|---|---|---|---|---|
| 1 | Intron 1 | c.339+2T>C a | None (affects splicing) | Kim et al 19 |
| 2 | Exon 1 | c.301G>A | p.(Val101Met) b | Kim et al 19 |
| 3 | Exon 2 | c.342C>A | p.(Asp114Glu) | Kim et al 19 |
| 4 | Exon 3 | c.617del | p.(Glu206Glyfs*82) | Deinum et al 20 |
| 5 | Exon 4 | c.806G>T | p.(Cys269Phe) | Deinum et al 20 |
| 6 | Exon 6 | c.1033G>A | p.(Asp345Asn) b | Kim et al 19 |
| 7 | Exon 6 | c.1085C>A | p.(Ala362Glu) | Kim et al 19 |
| 8 | Intron 8 | c.1374+2_1374+20del | None (affects splicing) | Deinum et al 20 |
| 9 | Exon 9 | c.1409_1410delinsTG | p.(Thr470Met) | Bartoletti‐Stella et al 21 |
| 10 | Exon 11 | c. 1667A>G | p.(Tyr556Cys) | Deinum et al 20 |
Note: Pathogenic DBH variants reported in patients with DBH‐deficiency. Numbers in column 1 correspond with numbers in column 12 (Molecular diagnosis) of Table S1. RefSeq IDs are NM_000787.4 for DNA and NP_000778.3 for protein.
a
Also reported as IVS1+2T>C.
b
This has only been described in trans with c.1033G>A, one of the two may not be pathogenic.