Genetic analysis and clinical features of patients with DBA heterozygous for RPS19 gene mutations in the study
| Case no. . | Age/sex . | Congenital anomalies . | Mutations in RPS19 gene . | Predicted effect on RPS19 . | Hb* (g/L) . | Ret (× 109/L) . | WBC (× 109/L) . | Platelets (109/L) . |
|---|---|---|---|---|---|---|---|---|
| 1 | 12/M | Yes | Loss of entire allele | Haploinsufficiency | 94 | < 5 | 4.5 | ND |
| 2 | 11/F | Yes | Chromosomal break in intron 3 | Truncation or haploinsufficiency | 123 | < 10 | 4.1 | 83 |
| 3 | 20/F | No | 184 C → T | Arg62Trp | 86 | < 10 | 3.0 | 140 |
| 4 | 24/F | No | 157,158 TT → AA + 160 ins CT | Leu45Glu, frameshift from codon 47 | 136 | 57 | 7.4 | 257 |
| Case no. . | Age/sex . | Congenital anomalies . | Mutations in RPS19 gene . | Predicted effect on RPS19 . | Hb* (g/L) . | Ret (× 109/L) . | WBC (× 109/L) . | Platelets (109/L) . |
|---|---|---|---|---|---|---|---|---|
| 1 | 12/M | Yes | Loss of entire allele | Haploinsufficiency | 94 | < 5 | 4.5 | ND |
| 2 | 11/F | Yes | Chromosomal break in intron 3 | Truncation or haploinsufficiency | 123 | < 10 | 4.1 | 83 |
| 3 | 20/F | No | 184 C → T | Arg62Trp | 86 | < 10 | 3.0 | 140 |
| 4 | 24/F | No | 157,158 TT → AA + 160 ins CT | Leu45Glu, frameshift from codon 47 | 136 | 57 | 7.4 | 257 |
The 4 patients have been described elsewhere.7,17 19
Hb indicates hemoglobin; Ret, reticulocytes; WBC, white blood cells.
Patients 1, 2 and 3 are transfusion dependent.