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
| 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 |