Table 1.
Mutations in PCCA and PCCB genes identified in Saudi Arabian cases with Propionic Acidemia (PA).
| Gene | Nucleotide change | Amino acid change | Number of families | Reference |
|---|---|---|---|---|
| PCCA | c.111_130del20 | Cys44Leufs*6 | 3 | This study |
| PCCA | c.266C > G | Thr89Arg | 1 | This study |
| PCCA | c.425G > A | Gly142Asp | 59 | [26] |
| PCCA | c.955C > T | Gln319* | 1 | This study |
| PCCA | c.1288C > T | Arg430* | 2 | [29] |
| PCCA | c.1375_1391dup + c.1391ins | 1 | This study | |
| PCCA | c.2120 T > G | Val707Gly | 1 | This study |
| PCCB | c.90_108del(19N)ins(14N) | Ser30Argfs*25 | 1 | This study |
| PCCB | c.337C > T | Arg113* | 1 | [41] |
| PCCB | c.518_543del26 | Leu173* | 1 | This study |
| PCCB | c.629 T > C | Leu210Pro | 1 | This study |
| PCCB | c.866G > C | Arg289Pro | 1 | This study |
| PCCB | c.990dupT | Glu331* | 7 | [16] |
| PCCB | c.1088C > T | Ser363Leu | 1 | This study |
| PCCB | c.1163 T > A | Leu388His | 2 | This study |
| PCCB | c.1210G > A | Glu404Lys | 1 | [26] |
Novel mutations are in bold