Table 2.
Clinical features of individuals with bi-allelic EIF3F variants
| Feature | Current study (total no. of indiv. with data; percent of aff. indiv.) | Published study (total no. of indiv. with data; percent of aff. indiv.) [9] |
|---|---|---|
| Homozygous for c.694T>G/ p.(Phe232Val) | 16 (17; 94%) | 9 (9; 100%) |
| Parental consanguinity | 1 (17; 6%) | 0 (7; 0%) |
| Family history | ||
| Affected sibling(s) (bi-allelic EIF3F variants) | 4 (17; 24%) | 2 (9; 22%) |
| Parents with neurological symptoms | 2 parents (34; 6%; epilepsy or migraines) | 1 parent (14; 7%; mild ID) |
| Gender | ||
| Female | 15 (68%) | 5 (56%) |
| Male | 7 (32%) | 4 (44%) |
| Average age at last examination in years (median) | 12.1 ± 9.6 (8.5) | 16.3 ± 13.4 (13.0) |
| Pregnancy/delivery | ||
| Eventful pregnancy | 1 (21; 5%; oligo-hydramnios) | 1 (9; 11%; abnormal prenatal scan) |
| Premature delivery | 2 (20; 10%) | 0 (9; 0%) |
| Perinatal asphyxia | 1 (19; 5%; suspected) | 0 (9; 0%) |
| Development | ||
| Global developmental delay | 21 (21; 100%) | 9 (9, 100%) |
| Speech delay | 21 (21; 100%) | n.a |
| No speech | 5 (21; 24%) | n.a |
| Regression | 3 (21; 14%) | n.a |
| Behavioral problems | 12 (21; 57%) | 6 (9; 33%) |
| Hearing loss | 12 (21; 57%) | 3 (9; 33%) |
| Muscular hypo-/hypertonia | 10 (21; 48%) | (%) |
| Ophthalmological findings | ||
| Hyper-/myopia | 8 (21; 38%) | |
| Strabismus | 3 (21; 14%) | 1 (9; 11%) |
| Nystagmus | 1 (21; 5%) | |
| Coloboma | 1 (21; 5%) | |
| Brain imaging | ||
| Nonspecific findings | 5 (13; 38%) | 3 (7; 43%) |
| Sleeping problems | 5 (21; 24%) | n.a |
| Epilepsy—confirmed | 3 (20; 15%) | 6 (7; 86%) |
| Other neurological issues | ||
| Encephalopathy | 1 (21; 5%) | n.a |
| Meningioma | 2 (21; 10%) | |
| Psychosis | 1 (21; 5%) | |
| Body measurements | ||
| Microcephaly at birth | 4 (10; 40%) | 0 (1; 0%) |
| Short stature at birth | 3 (15; 20%) | n.a |
| Microcephaly later | 6 (19; 32%) | 1 (8; 13%) |
| Short stature later | 8 (20; 40%) | 1 (4; 25%) |
| Malformations | ||
| Cleft lip/ palate (incl. minor form) | 2 (20; 10%) | 1 (9; 11%) |
| Gastrointestinal symptoms | 5 (21; 24%) | n.a |
| Dysmorphisms | ||
| Fine facial features | 2 (19; 11%) | n.a |
| Findings of nose | 5 (20; 25%) | |
| Posteriorly rotated ears | 7 (20; 35%) | |
| Deep set or encased nails of fingers and/ or toes | 6 (20; 30%) | n.a |
| Abnormality 5th finger/ toe (shortness, clinodactyly) | 3 (20; 15%) | |
| Short hands/ feet or slender fingers/ toes | 5 (20; 25%) | |
| Flat feet | 3 (20; 15%) | |
Each row indicates the number of individuals/ families with the specified feature (number in parantheses indicate number of individuals with available information on this feature and percentage). Due to an additional confounding diagnosis of MECP2-related disorder in affected individual of P2 and the issue of overlapping phenotypes, we considered this individual only for the first four categories, but no further aspects
aff. indiv.: affected individuals; incl.: including; n.a. not applicable; No./ no.: number