Comparison of genetic and clinical data of previously reported cases with HYOU1 variants and patients reported in this study
| | Haapaniemi et al. (6) | Jafari Khamirani et al. (8) | Arab et al. (9) | Patient 1 | Patient 2 |
|---|---|---|---|---|---|
| Ethnicity | Finnish | Iranian | Iranian | Iranian | American |
| Age | 45 years | 3 mo | 4 years | 9 years | 32 years |
| Sex | Female | Female | Female | Male | Male |
| Zygosity | Compound heterozygous | Homozygous | Compound heterozygous | Homozygous | Compound heterozygous |
| Variantsa | p.Ala419Pro | p.Arg486Cys | p.Leu23Phe | p.Pro444His | p.Arg262Gln p.Pro757_Glu758insAla |
| p.Tyr231His | p.Arg915Gln | ||||
| Small for gestational age | + | − | − | + | − |
| FTT | + | − | − | + | − |
| Recurrent respiratory tract infection | + | + | + | − | + |
| Recurrent diarrhea | + | + | − | + | + |
| Neurodevelopmental delay/regression | − | + | − | − | − |
| Herpes infection | + | − | − | − | − |
| Pectus carinatum | + | + | − | − | − |
| Facial dysmorphism | + | − | − | + | − |
| Hypoglycemia | + | − | − | + | − |
| Neutropenia | + | + | + | + | − |
| Reduced B cells | + | + | − | + | + |
| (Pancytopenia) | |||||
| Anemia | + | + | − | + | − |
| Thrombocytopenia | + | + | − | + | − |
| | Haapaniemi et al. ( | Jafari Khamirani et al. ( | Arab et al. ( | Patient 1 | Patient 2 |
|---|---|---|---|---|---|
| Ethnicity | Finnish | Iranian | Iranian | Iranian | American |
| Age | 45 years | 3 mo | 4 years | 9 years | 32 years |
| Sex | Female | Female | Female | Male | Male |
| Zygosity | Compound heterozygous | Homozygous | Compound heterozygous | Homozygous | Compound heterozygous |
| Variants | p.Ala419Pro | p.Arg486Cys | p.Leu23Phe | p.Pro444His | p.Arg262Gln p.Pro757_Glu758insAla |
| p.Tyr231His | p.Arg915Gln | ||||
| Small for gestational age | + | − | − | + | − |
| FTT | + | − | − | + | − |
| Recurrent respiratory tract infection | + | + | + | − | + |
| Recurrent diarrhea | + | + | − | + | + |
| Neurodevelopmental delay/regression | − | + | − | − | − |
| Herpes infection | + | − | − | − | − |
| Pectus carinatum | + | + | − | − | − |
| Facial dysmorphism | + | − | − | + | − |
| Hypoglycemia | + | − | − | + | − |
| Neutropenia | + | + | + | + | − |
| Reduced B cells | + | + | − | + | + |
| (Pancytopenia) | |||||
| Anemia | + | + | − | + | − |
| Thrombocytopenia | + | + | − | + | − |
Based on NCBI Reference Sequence NP_001124463.1.
Sharing content requires targeting cookies to be enabled. Please update your cookie preferences to use this feature.