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Table 2 Clinical features of individuals with bi-allelic EIF3F variants

From: EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum

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%)  
  1. 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
  2. aff. indiv.: affected individuals; incl.: including; n.a. not applicable; No./ no.: number
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172