Table 1.
Clinical Characteristics of RTS Type 1-Affected Individuals with ANAPC1 Mutations
| Individuals Homozygous for the Intron 22 Mutation | Individuals Compound Heterozygous for the Intron 22 Mutation and Another Mutation | Individuals WithoutANAPC1 Mutations | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Individual | 1 | 2 | 3A | 3B | 4 | 5 | 6A | 6B | 7A | 7B | 8A | 8B | 9 | |
| Gender | f | f | f | f | f | m | m | m | m | m | m | m | f | |
| Eyes | Bilateral juvenile cataracts | + | + | + | + | + | + | + | + | + | + | − | − | − |
| Ectoderm | Poikiloderma | + | + | + | + | + | + | + | + | + | + | + | + | + |
| Sparse or absent hair, eyebrows, or eyelashes | − | + | + | + | + | + | + | + | + | + | + | + | − | |
| Abnormal teeth | − | − | − | − | + | − | + | + | + | + | − | − | − | |
| Abnormal nails | − | − | − | − | − | − | + | + | + | + | − | − | − | |
| Other systems | Endocrine and fertility | − | POF | − | POF | − | Hypogonadism | HypoT4 | HypoT4 | − | − | − | − | − |
| Undescended testes | NA | NA | NA | NA | NA | + | + | + | + | + | − | − | − | |
| Short stature | − | − | − | − | + | + | + | + | + | + | + | + | − | |
| Growth hormone therapy | − | − | − | − | − | + | + | + | + | + | − | − | − | |
| Skeletal abnormalities | + | − | − | − | − | − | + | + | + | + | − | − | − | |
| Neurological | − | − | − | − | − | DD | ID | ADHD | − | − | − | − | − | |
Abbreviations are as follows: f = female, m = male; ID = intellectual disability; DD = developmental delay; ADHD, =attention-deficit hyperactivity disorder; HypoT4 = hypothyroidism; NA = not applicable, and POF = premature ovarian failure. See Table S1 for additional details and Figure S1 for radiographs of some of the skeletal changes (sclerotic marks).