Table 2 Mutations and phenotypic features of surviving patients with KIAA1109 mutations
Reference | This study, F1.IV-1 | This study, F1.IV-2 | This study, F1.IV-3 | This study, F2.IV-2 | Gueneau, et al., 2018 [1] | Gueneau, et al., 2018 [1] | Gueneau, et al., 2018 [1] |
|---|---|---|---|---|---|---|---|
Sex, Age | Male, 38 yo | Male, 31 yo | Male, 23 yo | Male, 24 yo | Male, 13 yo | Female, 7 yo | Female, 11 yo |
Mutation | g. 123140678A > G; c.2431A > G (hom) | g. 123140678A > G; c.2431A > G (hom) | g. 123140678A > G; c.2431A > G (hom) | g. 123140678A > G; c.2431A > G (hom) | Chr4:123160823; c.3986A > C (het) Chr4:123170727; c.5599G > A (het) | Chr4:123160823; c.3986A > C (het) aChr4:123170727; c.5599G > A (het) | Chr4:123164200; c.4719G > A (het) and Chr4:123171679; c.5873G > A (het) |
Protein Change | p.Thr811Ala | p.Thr811Ala | p.Thr811Ala | p.Thr811Ala | p.Tyr1329Cys and p.Val1867Met | p.Tyr1329Cys and p.Val1867Met | p.Met1573Ile and p.Arg1958Gln |
ID | Mild | Mild | Moderate | Severe | Severe | Severe | Moderate |
Neuropsychiatric | Delayed motor milestones, shy and uncooperative | Delayed motor milestones | Expressive speech delay, delayed motor milestones, social anxiety | Delayed motor and language milestones, impulsive, irritable, short-tempered, stubborn, occasional head-banging, shy/asocial | Global developmental delay, no language, cannot stand or walk without support, early onset epilepsy | Global developmental delay, no language, cannot sit or stand without support, stereotypic movements, early onset epilepsy | Global developmental delay, mild to moderate learning disability, poor concentration, immature behavior with minor self-harm (head-banging) when angry/frustrated |
Imaging | Not done | Not done | Not done | Not available | Post-natal brain MRI: small posterior fossa arachnoid cyst, discrete vermian atrophy, slight increase in the fluid-filled retro- and infracerebellar space and mild enlargement of subarachnoid spaces of frontal regions | Post-natal brain MRI: discrete parenchymal rarefaction involving the frontal lobes | Prenatal imaging (US and MRI): major microcephaly (HC −5 SD) with reduced white matter volume and mild ventriculomegaly |
Head and neck | High arched palate, low set ears, prominent eyebrows, mild beaking of the nose | High arched palate | – | Malformed dentition, high arched palate, pointed ear on right side, long face, simian crease right hand, long thumb, small sub-mental region | Plagiocephaly, refractive errors of the eyes, delayed dentition | Plagiocephaly, refractive errors of the eye, strabismus | Hypertelorism, slightly upslanting palpebral fissures, ocular motor apraxia, refractive errors of the eye, strabismus, dental crowding, high palate |
Skeletal System | – | – | – | Cubitus valgus, high-arched foot, reduced muscle bulk | Mild contractures of large joints, syndactyly of 2nd and 3rd toes, limb paresis at birth, talipes valgus, muscle hypotonia and atrophy | Mild contractures of large joints, paretic position of hands and feet in infancy, talipes valgus, muscle hypotonia and atrophy | Asymmetry of the thorax, mild bilateral talipes, syndactyly of 2nd and 3rd toes, 5th toe clinodacytly, hallux valgus |
GI | – | – | – | – | – | Chronic constipation | Gastroesophageal reflux |
Heart | – | – | – | – | – | – | Tetralogy of Fallot with pulmonary atresia |
Urogenital | – | – | – | – | Scrotal hypoplasia | – | – |
Other | – | – | – | – | – | Dermatitis, psoriasis | – |