Table 2.
Phenotypic comparison of individuals with a 6q16.1 microdeletion versus intragenic POU3F2 variant
| Category | Trait/phenotype | 6q16.1 deletions (A)11 | POU3F2 intragenic rare variants (B) | Ratio (B/A) |
|---|---|---|---|---|
| NDD traits | Infantile feeding difficulties (yes/total) (%) | 2/9 (22%) | 5/9 (56%) | 2.5 |
| Sex (male/female) (% male) | 6/4 (60%) | 9/2 (82%) | 1.4 | |
| Speech delay (yes/total) (%) | 10/10 (100%) | 10/11 (91%) | 0.9 | |
| Learning disabilities (yes/total) (%) | 10/10 (100%) | 10/11 (91%) | 0.9 | |
| Neonatal hypotonia (yes/total) (%) | 8/10 (80%) | 6/9 (67%) | 0.8 | |
| Motor delay (yes/total) (%) | 9/10 (90%) | 6/11 (55%) | 0.6 | |
| Metabolic traits | Birth weight ≤ 50th percentile (yes/total) (%) | 5/9 (56%) | 9/9 (100%) | 1.8 |
| Hyperphagia (yes/total) (%) | 9/10 (90%) | 7/11 (64%) | 0.7 | |
| Obesity (yes/total) (%) | 9/9 (100%) | 8/11 (73%) | 0.7 |
Traits per category in order of comparative ratio (B/A). Of note, while a theoretical ratio of 1 would constitute 100% phenotypic overlap, ratios < 1 indicate higher trait frequency in individuals with 6q16.1 deletions as compared to intragenic variants and ratios > 1 denote trait predominance in individuals with intragenic variants as compared to microdeletions. Most phenotypic overlap can be found for the following traits: speech delay (ratio 0.9), learning disabilities (ratio 0.9), neonatal hypotonia (ratio 0.8), and hyperphagic obesity (ratio 0.7). Less phenotypic overlap can be observed for infantile feeding difficulties (ratio 2.5), low birth weight (ratio 1.8), male predominance (ratio 1.4), and motor delay (ratio 0.6). NDD, neurodevelopmental delay.