Table 2.
Notable CA5A gene variants reported in the literature from multiple ethnicities.
| Reference | Current (2025) | Ref [10] (2025) | Ref [6] (2025) | Ref [16] (2024) | Ref [9] (2024) | Ref [8] (2022) | Ref [15] (2022) | Ref [14] (2022) | Ref [13] (2021) |
|---|---|---|---|---|---|---|---|---|---|
| Number of patients | 3 | 1 | 1 | 18 | 1 | 1 | 1 | 1 | 1 |
| Ethnicity | Saudi | Guatemalan | Indian | Omani | Indian | Russian | Unknown (UK) | Indian | Indian |
| CA5A Variant (NM_001739.2) | Exon 3–7 del | c.475 T > C; p.W159R | Exon 6 del | c.59G>; p.W20* | Exon 6 del c.721G > A; p.E241K: | c.555G > A; p.K185K | Exon 6 del | c.59G > A; p.W20* | c.123G > A; p.W41*; c.690C > T; p.W230W |
| Type of variant | Gross Deletion | Missense | Deletion | Nonsense | Missense, Deletion | Synonymous | Deletion | Non-sense | Nonsense, Synonymous |
| Zygosity | Homozygous | Homozygous | Homozygous | Homozygous | Compound heterozygous | Homozygous | Homozygous | Homozygous | Compound Heterozygous |
| Pathogenicity | Pathogenic | L.P | Pathogenic | Pathogenic | Pathogenic | L.P | Pathogenic | Pathogenic | Pathogenic, Likely Benign |
| ACMG Classification | PM2, PM3, PP3 PVS1, PS3 | PM2, PP3, PP4 | PM2, PM3, PP3, PP4 | PVS1, PM2, PP4 | PS3, PM2. PP3, PP4 | PM2, PP3, PP5, PP4 | PM2, PM3, PP3, PP4 | PVS1, PM2, PP4 | PVS1, PM2, PP4; PM2, BP6, BP7 |
| Developmental delay | YES | NO | NO | YES | NO | NO | NO | YES | NO |
| Hyperammonemia | NO | YES | YES | YES, NO (n = 2) | YES | YES | YES | YES | YES |
| Hyperlactatemia | NO | YES | YES | YES | YES | YES | YES | YES | YES |
| Metabolic acidosis | NO | YES | YES | YES | YES | YES | YES | NO | YES |
| Ketosis | NO | YES | YES | YES | YES | YES | YES | NO | YES |
| HyperCKemia | NO | YES | NR | YES | NR | YES | NR | NR | NR |
| Hypoglycemia | NO | YES | YES | NO | NO | YES | NO | YES | NO |
| Reference | Ref [5] (2020) | Ref [7] (2020) | Ref [11] (2020) | Ref [12] (2020) | Ref [4] (2016) | Ref [1] (2014) |
|---|---|---|---|---|---|---|
| Number of patients | 2 | 1 | 3 | 1 | 10 | 4 |
| Ethnicity | Indian, Srilankan | Unknown (Germany) | Indian | Unknown (Turkey) | Turki, Indian, Russian, Pakistani, Belgian, Bangali | Belgian, Russian, Pakistani |
| CA5A Variant (NM_001739.2) | c.721G > A; p.E241K; Exon 6 del | c.721G > A; p.E241K | c.721G > A: c.788G > A and c.868C > T: Exon 1 del | c.721G > A; p.E241K | c.697 T > C; p.S233P: c.721G > A;p.E241K: Exon 6 del: c.555G > A-skipping of exon 4: c.123G > A; p.W41*: c.458_459 + 22del: c.555 + 4_555 + 183del | c.697 T > C: c.555G > A-skipping of exon 4: Exon 6 del: c.619_851del |
| Type of variant | Missense, Deletion | Missense | Deletion | Missense | Missense, Deletion | Missense, Deletion |
| Zygosity | Compound Heterozygous | Homozygous | Homozygous | Homozygous | Homozygous | Homozygous |
| Pathogenicity | Pathogenic | Pathogenic | Pathogenic | Pathogenic | Pathogenic | Pathogenic |
| ACMG Classification | PM2, PM3, PS3, PP3, PP4 | PM2, PM3, PS3, PP3, PP4 | PM2, PM3,PS3, PP3, PP4 | PM2, PM3, PS3, PP3, PP4 | PM2, PP3,PP5, PP4, PVS1 | PM2, PP3, PP5, PP4, PVS1 |
| Developmental delay | NO | NO | NO | NO | NO | NO |
| Hyperammonemia | YES | YES | YES | YES | YES | YES |
| Hyperlactatemia | YES | YES | YES | YES | YES | YES |
| Metabolic acidosis | YES | YES | YES | YES | YES | YES |
| Ketosis | YES | NR | NO | YES | YES | YES |