Various aspects of the proband’s clinical presentation are consistent with previously reported SAMHD1 deficiency or MN1 haploinsufficiency cases
| Proband genotype | MN1 c.1306c>t, p.G436* | t(17;20)(p11.2;q11.23) | ||
|---|---|---|---|---|
| Proband phenotype(s) | MN1 haploinsufficiency | Reference | SAMHD1 deficiency | Reference |
| Developmental/sensory | ||||
| Growth restriction | Consistent | (26) | Consistent | (27, 28) |
| Microcephaly | Consistent | (24) | Consistent | (27, 29, 30) |
| Facial dysmorphism | Consistent | (24, 26) | One case | (31) |
| Hoarse voice | Not reported | | Consistent | (28, 32, 33) |
| Sensorineural hearing loss | Not reported | | Not reported | |
| Unilateral myopia | Not reported | | Not reported | |
| Late eruption of permanent teeth | Not reported | | Not reported | |
| Cutaneous | ||||
| Perniosis, acral ischemia | Not reported | | Consistent | (22, 27, 28, 30, 34, 35, 36) |
| Dry or scaly skin (e.g., eczema) | Not reported | | Consistent | (29, 34, 35) |
| Immune/inflammatory | ||||
| Elevated IFN signature | Not reported | | Consistent | (20, 21, 22, 27, 30) |
| Small joint arthritis | Not reported | | Consistent | (27, 28, 29, 30) |
| Mild anemia | Not reported | | Consistent | (37) |
| Accelerated ESR | Not reported | | Consistent | (27, 28) |
| Neutropenia | Not reported | | Consistent | (37) |
| Hypergammaglobulinemia | Not reported | | Consistent | (28, 34, 38) |
| NK cell lymphopenia | Not reported | | Not reported | |
| Cardiovascular | ||||
| Mitral regurgitation | Not reported | | One case | (39) |
| Proband genotype | t(17;20)(p11.2;q11.23) | |||
|---|---|---|---|---|
| Proband phenotype(s) | Reference | Reference | ||
| Growth restriction | Consistent | ( | Consistent | ( |
| Microcephaly | Consistent | ( | Consistent | ( |
| Facial dysmorphism | Consistent | ( | One case | ( |
| Hoarse voice | Not reported | | Consistent | ( |
| Sensorineural hearing loss | Not reported | | Not reported | |
| Unilateral myopia | Not reported | | Not reported | |
| Late eruption of permanent teeth | Not reported | | Not reported | |
| Perniosis, acral ischemia | Not reported | | Consistent | ( |
| Dry or scaly skin (e.g., eczema) | Not reported | | Consistent | ( |
| Elevated IFN signature | Not reported | | Consistent | ( |
| Small joint arthritis | Not reported | | Consistent | ( |
| Mild anemia | Not reported | | Consistent | ( |
| Accelerated ESR | Not reported | | Consistent | ( |
| Neutropenia | Not reported | | Consistent | ( |
| Hypergammaglobulinemia | Not reported | | Consistent | ( |
| NK cell lymphopenia | Not reported | | Not reported | |
| Mitral regurgitation | Not reported | | One case | ( |
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