Summary of genotype and phenotype characteristics with respect to GD and CMMRDS
| . | Mother . | Father . | Child 1 . | Child 2 . |
|---|---|---|---|---|
| Age, y | 33 | 35 | 6 | 3.5 |
| GBA genotype | D137N/WT | D137N/WT | D137N/D137N | D137N/D137N |
| GD phenotype | ||||
| WBCs, × 109/L | 6.2 | ND | 7.3 | 8.2 |
| Hemoglobin, g/dL | 11.8 | ND | 9.9 | 10.1 |
| Platelets, × 109/L | 222 | ND | 196 | 418 |
| Liver volume, × normal | ND | ND | 1.9 | 1.4 |
| Spleen volume, × normal | ND | ND | 6.3 | 2.4 |
| MRI bone marrow | ND | ND | EFD | WNL |
| BM biopsy | ND | ND | GC 3+ | GC 3+ |
| Leukocyte β-glucosidase (range, 0.08-0.35/u/1010 cells) | 0.06 | 0.07 | 0.01 | 0.01 |
| CCL18 (normal, < 35 ng/mL) | 62.9 | 28.3 | 1065 | 240 |
| Chitotriosidase (normal, < 50), nmol/h/mL | 26.6 | 27.6 | 6599 | 1408 |
| MSH6 genotype | c.3822dupA/WT | c.3822dupA/WT | c.3822dupA/c.3822dupA | c.3822dupA/c.3822dupA |
| MSH6 phenotype | ||||
| CALMs | Absent | Absent | Present | Present |
| Axillary freckling | Absent | Absent | Present | Present |
| Malignancy | Absent | Absent | T-LBL | T-LBL |
| Overall phenotype | LS | LS | GD/CMMRD | GD/CMMRD |
| . | Mother . | Father . | Child 1 . | Child 2 . |
|---|---|---|---|---|
| Age, y | 33 | 35 | 6 | 3.5 |
| GBA genotype | D137N/WT | D137N/WT | D137N/D137N | D137N/D137N |
| GD phenotype | ||||
| WBCs, × 109/L | 6.2 | ND | 7.3 | 8.2 |
| Hemoglobin, g/dL | 11.8 | ND | 9.9 | 10.1 |
| Platelets, × 109/L | 222 | ND | 196 | 418 |
| Liver volume, × normal | ND | ND | 1.9 | 1.4 |
| Spleen volume, × normal | ND | ND | 6.3 | 2.4 |
| MRI bone marrow | ND | ND | EFD | WNL |
| BM biopsy | ND | ND | GC 3+ | GC 3+ |
| Leukocyte β-glucosidase (range, 0.08-0.35/u/1010 cells) | 0.06 | 0.07 | 0.01 | 0.01 |
| CCL18 (normal, < 35 ng/mL) | 62.9 | 28.3 | 1065 | 240 |
| Chitotriosidase (normal, < 50), nmol/h/mL | 26.6 | 27.6 | 6599 | 1408 |
| MSH6 genotype | c.3822dupA/WT | c.3822dupA/WT | c.3822dupA/c.3822dupA | c.3822dupA/c.3822dupA |
| MSH6 phenotype | ||||
| CALMs | Absent | Absent | Present | Present |
| Axillary freckling | Absent | Absent | Present | Present |
| Malignancy | Absent | Absent | T-LBL | T-LBL |
| Overall phenotype | LS | LS | GD/CMMRD | GD/CMMRD |
ND indicates not determined; WT, wild-type; WNL, within normal limits; EFD, Erlenmeyer-flask deformity; GC, Gaucher cells; and CCL18, chemokine (C-C motif) ligand 18.