Table 2.
Overlapping Features Seen in Our Subjects, Individuals with Isolated 1p36 Deletions that Include RERE, and Zebrafish and Mice Models
| Phenotype | Subjects 1–10 Documented with Phenotype (% and No.) | Individuals with Isolated 1p36 Deletions Involving RERE Documented with Phenotype (% and No.) | Related Phenotype Documented in Rerea-Deficient Zebrafish?13, 17 | Related Phenotype Documented in RERE-Deficient Mice?14, 15 |
|---|---|---|---|---|
| Neurologic problems | 100% (10/10) | 97% (30/31) | no | no |
| CNS anomalies | 88% (7/8) | 29% (9/31) | no | yes |
| Ophthalmologic abnormalities | 40% (4/10) | 42% (13/31) | yes | yes |
| Hearing loss | 10% (1/10) | 26% (8/31) | yes | yes |
| Orofacial clefting | 10% (1/10) | 16% (5/31) | no | no |
| Congenital heart defects | 40% (4/10) | 71% (22/31) | no | yes |
| Genitourinary anomalies | 50% (5/10) | 13% (4/31) | no | yes |