Table 1 Details of reported cases with c.65-13G > A variant.
From: A case of severe Aicardi–Goutières syndrome with a homozygous RNASEH2B intronic variant
Age at report (months) | Sex | Ethnicity | Mutations | Clinical manifestations | |
|---|---|---|---|---|---|
Patient 16 | 66 | F | White French | c.65-13G > A p.Glu22Valfs*5/c.529G > A p.Ala177Thr | NA |
Patient 26 | 9 | M | White French | c.65-13G > A p.Glu22Valfs*5/c.529G > A p.Ala177Thr | NA |
Patient 36 | 3 | F | French European | c.65-13G > A p.Glu22Valfs*5/c.529G > A p.Ala177Thr | NA |
3 families8 | NA | NA | North African, Northern European | c.65-13G > A p.Glu22Valfs*5/NA | NA |
12, 43 | M | Indian mother Italian father | c.65-13G > A p.Glu22Valfs*5/c.253C > G p.L85V | Late onset and slowly progressive: presented with irritability, sleep disturbances, and neuromotor regression. | |
Present case | Deceased at 14 | F | Sri Lankan | c.65-13G > A p.Glu22Valfs*5/c.65-13G > A p.Glu22Valfs*5 | Prenatal onset with multiple pseudo-TORCH symptoms. |
