Table 2.
Comparison of diagnostic features of reported patients with RNF168 deficiency.
| Patient 1 (15-9BI) (3, 4) | Patient 2 (RS66) (18) | Patient 3 (HA591) (this study) | Patient 4 (HA592) (this study) | |
|---|---|---|---|---|
| Country of origin | UK | Turkey | Poland | Poland |
| Sex | Male | Male | Female | Male |
| Age | 22 | 16 | 13 | 21 |
| RNF168 mutation (cDNA level) | c.397dupG/c.1323_1326delACAA | c.391C > T homozygous | c.295delG homozygous | c.295delG homozygous |
| RNF168 mutation (protein level) | p.A133Gfs*10/p. N441Rfs*16 | p.R131X homozygous | p.E99Kfs*17 homozygous | p.E99Kfs*17 homozygous |
| ATM mutation | No | No | c.1402_1403delAA heterozygous | No |
| Cellular radiosensitivity | Yes | Yes | Yes | Yes |
| Reduced IgG | Yes | No | Yes (IgG2) | Yes |
| Reduced IgA | (No)a | Yes | Yes | Yes |
| Elevated AFP | n.d. | Yes | Yes | Yes |
| Ataxia | (No)b | Yes, mild | (No)b | (No)b |
| Telangiectasia | No | Yes | Yes | Yes |
| Short stature | Yes | Yes | No | No |
| Microcephaly | (No)c | Yes | (No)c | No |
| Learning difficulties | Yes | No | Yes | No |
| Respiratory failure | No | Yes | No | No |
Clinical and cellular features were summarized for the first (15-9BI) and second (RS66) reported patients with RNF168 deficiency according to the descriptions by Stewart et al. (3) and Devgan et al. (18), and for the two new patients in the present report.
aBorderline in early childhood.
bMild motor control difficulties.
cMild facial dysmorphism.
Ig, immunoglobulin; AFP, alpha-fetoprotein.