Table 2.
Summary representation of the clinical symptoms and findings and genetic variants, of the patients presented in this study and comparison with the patients presented by Filges et al.
| Family no. | Family 1 | Family 2 | Family 3 | Family 4 | Filges et al. [15] | ||||
|---|---|---|---|---|---|---|---|---|---|
| Individual ID (Fig. 1) | V:3 | V:4 | IV:4 | IV:6 | IV:1 | IV:2 | IV:3 | NA | |
| Country of parental origin | Egypt | Turkey | Egypt | Iran | Caucasian | ||||
| Gender | Female | Female | Male | Female | Female | Female | Male | Female | Female |
| Age of examination | 12 y | 3 y | 23 y | 20 y | 5 y | 2.7 y | Fetus, 15 w GA | Fetus, 21 [4] w GA | Fetus, 18 [5] w GA |
| Weight | 18 kg (<p3) | 10.5 kg (p3) | 47 kg | NA, Slender build | 21.5 kg (p80) | 13.5 kg (p75) | ca. 176 g (p40) | IUGR | IUGR |
| Height | NA | 82 cm (<p3) | 157 cm (−3.7 SD) | 144 cm (−3.8 SD) | 102 cm (p10) | 98 cm (p90) | Normal intrauterine growth length | IUGR | IUGR |
| OFC | 52 cm (p10) | 47 cm (p3) | 48 cm (−5.1 SD) | 47 cm (−5.6 SD) | 41.5 cm (−6.4 SD) | 39.5 cm (−5.6 SD) | Severe microcephaly | <−2SD | <−2SD |
| Development and cognitive abilities | Severe ID | Severe ID | Severe ID | Severe ID | DD/ID, ADHD | Mild DD | NA | NA | NA |
| Eyes | Strabismus | Strabismus | Blindness, optic nerve hypoplasia, micropthalmia | Blindness, optic nerve hypoplasia, micropthalmia | Strabismus, squint | Mild strabismus | NA | NA | NA |
| Walking | 4 y | Not developed | Yes, need support | Yes | Walked at 1.5 y | Walked at 1.5 y | NA | NA | NA |
| Speech | Not developed | Not developed | Not developed | Not developed | Developed at 2.5 y after speech therapy | 3 words at 2.7 y | NA | NA | NA |
| Brain CT/MRI | Normal (CT) | Normal (CT) | Reduced brain volume, large basal cisterns, and optic atrophy. | NA | Microlissencephaly, | Reduced brain volume, microlissencephaly, corpus callosum hypogenesis | Normal | Cerebellar hypoplasia | Cerebellar hypoplasia, arhinencephaly, corpus callosum agenesis |
| Genitourinary system | Asymptomatic | Asymptomatic | Asymptomatic | Asymptomatic | Asymptomatic | Asymptomatic | Asymptomatic | Bilateral renal agenesis, ureteral agenesis, and uterine hypoplasia | Bilateral renal hypoplasia and cystic dysplasia, ureteral agenesis, uterine hypoplasia, and vaginal atresia |
| Variant GRCh37 | chr1:200567392G>A | chr1:200587606delA | chr1:200583526C>T | chr1:200523730delA | chr1:200573079_200573080del, chr1:200573050T>A | ||||
| KIF14 (NM_014875.2) | c.2522C>T | c.246delT | c.1375G>A | c.4432delA | c.1750_1751del, c.1780A>T | ||||
| Exon number | 14 | 2 | 4 | 29 | 9, 9 | ||||
| Predicted effect on protein | p.(Ser841Phe) | p.(Asn83Ilefs*3) | p.(Gly459Arg) | p.(Ser1478fs) | p.(Glu584Ilefs*16), p.(Arg594*) | ||||
| Type of variant | Missense | Frameshift | Missense | Frameshift | Frameshift | ||||
ADHD attention-deficit hyperactivity disorder, DD developental delay, GA gestational age, ID intellectual disability, IUGR intrauterine growth restriction, NA not available, OFC occipital frontal circumference, y years, w weeks