Table 2.
Characteristics of the GBA1 gene mutations identified.
| Allele Name | rs Number | cDNA | Exon | PD cases (n = 48) | controls (n = 44) | Pathological significance | |
|---|---|---|---|---|---|---|---|
| Carrier % (n) | Carrier % (n) | ||||||
| All GBA1 variants | — | — | — | 18.75% (9) | 6.8% (3) | — | |
| L444P | rs421016 | c.1448 T > C | HT | 10 | 2.1% (1) | — | Pathogenic: Gaucher’s disease Parkinson disease Dementia, Lewy body |
| E326K | rs2230288 | c.1093 G > A | HT | 8 | 2.1% (1) | 6.8% (3) | Conflicting; Gaucher’s disease Parkinsonism |
| T369M | rs75548401 | c.1223 C > T | HT | 8 | 8.4% (4) | — | Conflicting; Parkinson disease, late-onset |
| D380N | — | c.1255 G > A | HT | 9 | 2.1% (1) | — | Gaucher’s Disease |
| G82R | — | c.361 G > A | HT | 4 | 2.1% (1) | — | Unknown |
| W184R* N188K* V191G* S196P* G202R* F213I* Truncated GBA |
rs61748906 rs61748906 rs381427 rs1064644 rs398123534 rs381737 — |
c.667 T > C c.681 T > C c.689 T > G c.703 T > C c.721 G > A c.754 T > A — |
HM HM HM HM HM HM |
6 6 6 6 6 6 Intron 6: 321 bp del (Possible gene-pseudogene recombinant) |
2.1% (1) | — |
Pathogenic, Gaucher’s disease Pathogenic, Gaucher’s disease Gaucher’s disease Pathogenic, Gaucher’s disease Pathogenic, Gaucher’s disease Pathogenic, Gaucher’s disease Unknown |
Sequencing of GBA1 was performed to identify missense mutations that may be pathogenic for Parkinson’s disease. Pathological significance indicators were taken from the ClinVar database. Allele names follow the common nomenclature and apply to the processed protein, not including the 39-residue signal peptide. cDNA sequence numbering starts with the adenine of the first translated ATG start codon (GenBank reference sequence NM_000157.3). Alterations indicated with a * were all present in the same participant and correspond to sequence present in the GBA1 pseudogene, GBAP1. HM = Homozygous, HT = Heterozygous for the indicated mutation. References for this table are located in the supplementary references section.