Table 2 List of mutations (nucleotidic or amino acid change depending on the patients) for patients diagnosed with PA, MMA and IVA and neurological evaluation
From: Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias
Patient | Gene | Allele 1 | Allele 2 | Cognitive evolution at 11 y | Neurological examination anomalies | Brain MRI anomalies |
|---|---|---|---|---|---|---|
1 | PCCA | c.1284 + 4A > T | p.Arg430X | A | no | |
2 | PCCA | p.Ala138Thr | p.Ala138Thr | B | yes | yes |
3 | PCCB | p.Gln147GlnfsX2 | c.1218_1231del14ins12 | D | no | no |
4 | PCCB | p.Glu331X | p.Glu331X | C | no | yes |
5 | PCCB | p.Glu331X | p.Glu331X | D | yes | yes |
6 | PCCB | p.Arg514X | p.Arg529ArgfsX44 | yes | ||
7 | PCCB | p.Arg165Trp | ? | B | no | |
8 | PCCB | p.Phe180Ser | p.Phe180Ser | yes | yes | |
9 | PCCB | p.His258Arg | p.Arg376Cys | B | no | no |
10a | MMAA | del exon2-3-4 | del exon2-3-4 | A | no | |
10b | MMAA | del exon2-3-4 | del exon2-3-4 | D | yes | yes |
11 | MMAA | p.Arg22X | p.Arg22X | A (6 y) | no | yes |
12 | MMAA | p.Thr221del | p.Thr221del | A | no | |
13 | MMAA | p.Arg145X | ? | A | no | |
14 | MMAA | p.Arg196X | p.Arg196X | A (6 y) | no | |
15 | MMAA | c. 592_595del | c.594_598del | A | no | no |
16 | MMAA | p.Lys276Asn | p.Lys276Asn | A | no | |
17 | MMAB | p.Arg186Trp | p.Arg190Cys | A (6 y) | no | |
18 | MUT | c.360_361insT | c.360_361insT | C | no | yes |
19 | MUT | c.693_694insA | c.693_694insA | D (6 y) | no | yes |
20 | MUT | p.Gln352X | p.Gln352X | no | ||
21 | MUT | p.Arg474X | p.Arg511X | C | yes | yes |
22 | MUT | c.1876_1888del | c.1876_1888del | D | yes | yes |
23 | MUT | p.Arg228X | p.Arg369Cys | yes | no | |
24 | MUT | p.Ser342X | p.Arg93His | B (6 y) | no | |
25 | MUT | p.Ser342X | p.Arg694Trp | C | no | no |
26 | MUT | p.Ser342X | p.Ala191Glu | A (6 y) | no | yes |
27 | MUT | c.662delT | p.Gly158Val | no | no | |
28 | MUT | p.Arg511X | p.Gly642Arg | A | no | no |
29 | MUT | p.Arg511X | p.Arg603Thr | D (6 y) | no | no |
30 | MUT | p.Ala191Glu | p.Ala191Glu | D (6 y) | no | yes |
31 | MUT | p.Ala191Glu | p.Ala191Glu | D | no | |
32 | MUT | p.Ala191Glu | p.Ala191Glu | A (6 y) | no | yes |
33a | MUT | p.Ala191Glu | p.Gly623Arg | A (6 y) | no | |
33b | MUT | p.Ala191Glu | p.Gly623Arg | A | yes | no |
34 | MUT | p.Gly203Arg | p.Arg108Cys | no | yes | |
35 | MUT | p.Gly203Arg | p.Met700Lys | A | no | no |
36 | MUT | p.Gly215Ser | p.Gly215Ser | A (6 y) | no | no |
37 | MUT | p.Asn219Tyr | p.Asn219Tyr | A | no | no |
38 | MUT | p.Asn219Tyr | p.Asn219Tyr | yes | no | |
39 | MUT | p.Asn219Tyr | p.Gln383His | D | yes | yes |
40 | MUT | p.Asn219Tyr | p.Val162Phe | B (6 y) | no | |
41 | MUT | p.Asn219Tyr | p.Ala191Glu | D | yes | yes |
42 | MUT | p.Thr230Ile | p.Thr230Ile | A | no | yes |
43a | IVD | p.Arg284Gln | p.Arg284Gln | no | ||
43b | IVD | p.Arg284Gln | p.Arg284Gln | A | no | |
44 | IVD | p.Gly289Arg | p.Gly289Arg | no | yes | |
45 | IVD | p.Cys378Arg | p.Cys378Arg | A | no | |
46 | IVD | p.Arg392His | p.Arg392His | B | no |