Table 1.
Summary of reported families with mutations in STIL
| Kumar et al., 2009 | Darvish et al., 2010 | Papari et al., 2013 | Bennett et al., 2014 | Kakar et al., 2015 | Mouden et al., 2015 | This study | |
|---|---|---|---|---|---|---|---|
| Families reported, n | 4, consanguineous | 2, consanguineous | 1, consanguineous | 1, nonconsanguineous | 1, consanguineous | 1, consanguineous | 1, nonconsanguineous |
| Mutation(s) identified | hom p.Gln1240* (family IIS-17) hom p.Leu1219* (family IIS-28 and family IIS-45) hom p.Gly944Valfs*15 (family IIS-3) | unidentified | hom p.Leu798Trp* | c-Het p.Lys786Glufs*5 (paternal) p.Arg1280Cys (maternal) |
hom p.Asp89Glyfs*8 | hom p.Gly717Glu | c-Het p.His411Asp (maternal) p.Met1124Val (paternal) |
| Type of mutation | protein truncating | unidentified | missense | protein truncating; missense | protein truncating | missense | missense |
| Ethnicity | Indian | Iranian | Iranian | not reported | Pakistani | Turkish | Caucasian |
| Prenatal features | not reported | not reported | not reported | MC (OFC <−2 SD, 20th week ultrasonography), agyria and absent sulci, abnormal brain tissue consistent with holoprosencephaly and schizencephaly (31st week MRI) | not reported | not reported | II-8: MC, small cerebellum (P3), small CSP, poorly developed gyri, absent sulci, partial ACC (21st week ultrasonography) II-9: MC, small CSP, short corpus callosum, absence of lateral median and parieto-occipital sulci, pachygyria (20th week ultrasonography, fetal MRI) |
| OFC at birth | not reported | not reported | not reported | 26 cm (40 weeks) | not reported | not reported | / |
| Postnatal phenotype | primary MC (OFC <−4/−10 SD), mild to severe ID, developmental delay | primary MC, short stature, strabismus, ataxia, seizures | primary MC, mild ID | MC (OFC 33 cm at 6 months), hypsarrhythmia, questionable social smile and attention, mild hypotonia | severe MC (OFC ≤–9 SD), severe ID | II-3: severe MC (–7 SD), short stature (–3 SD), severe ID II-5: severe MC (–8 SD), short stature (–2 SD), self-aggression episodes, sleep disorders, developmental delay, tonic/clonic seizures | / |
| Postnatal brain MRI | not reported | not reported | not reported | agyria of frontal and temporal lobes with thickened cortex, interhemispheral cyst, ACC, hypoplastic pons, cerebellar dysgenesis (large symmetric bilateral schizencephaly or hydranencephaly with underlying migrational abnormalities) | severe foreshortened frontal lobe and small frontal horns, diffuse simplified gyral pattern, short dysmorphic corpus callosum, mildly small brainstem and cerebellum, lobar HPE | II-3: lobar HPE, absence of ventricular frontal horns, partial ACC II-5: semilobar HPE, atrophy of vermis, partial ACC, absence of occipital lobe | / |
ACC, agenesis of corpus callosum; c-Het, combined heterozygous; CSP, cavum septum pellucidum; hom, homozygous; HPE, holoprosencephaly; ID, intellectual disability; MC, microcephaly; OFC, occipitofrontal head circumference.