Table 1.
Summary of clinical information from each proband
| Proband 1 | Proband 2 | Proband 3 | Proband 4 | Proband 5 | Proband 6 | ||
|---|---|---|---|---|---|---|---|
| Human Variant | Y336* | Q147Gfs*82 | T319Nfs*5 | N94Rfs*47 | R295P | E306K | |
| Inheritance Pattern | De novo | Autosomal Dominant | De novo | Autosomal Dominant | De novo | De Novo | |
| Age of Onset (y/o) | 1 month | 0 | 3 | 0 | 0 | 2 months | |
| Current Age (y/o) | 32 | 17 | 8 | 15 months | 11 | 12 | |
| Sex | Male | Female | Male | Male | Male | Female | |
| Intellectual Disability | + | − | + | NA | + | − | 3/5 |
| Developmental Delay | + | + | + | + | − | + | 5/6 |
| Seizures | + | − | +b | + | +c | − | 4/6 |
| Neurological Abnormalities | + | + | + | + | + | + | 6/6 |
| Visual Disorders | + | + | − | + | − | + | 4/6 |
| Hearing Disorders | + | + | − | − | + | − | 3/6 |
| Craniofacial Abnormalities | + | +a | − | + | + | + | 5/6 |
| Palate Abnormalities | + | +a | − | − | − | + | 3/6 |
| Vertebral Abnormalities | + | + | + | − | + | + | 5/6 |
| Scoliosis | + | − | − | − | + | + | 3/6 |
| Toe Abnormalities | + | +a | − | − | − | + | 3/6 |
| Connective Tissue Abnormalities | + | − | − | − | + | + | 3/6 |
| Cardiac Abnormalities | + | +a | − | − | + | − | 3/6 |
| Aortic Dilation | + | − | − | − | + | − | 2/6 |
Summary of clinical information from each proband; detailed reports can be found in the supplemental materials. Proband 2 inherited the variant from her mother who has a milder phenotypic presentation. These phenotypes are indicated with an a. Proband 4 inherited his variant from his father, the father did not report any shared phenotypes. It is not known if the mother of proband 2 or father of proband 4 is mosaic.
b
For proband 3 absence seizures were also reported in a sister who did not carry a variant in GDF11.
c
For proband 5 seizures are likely due to Aicardi-Goutieres type 6.