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%) | |