Table 1 Clinical features and genetic findings in the patients of this study
Patient Number | Patient 1 original ACLS | Patient 2 original ACLS | Patient 3 | Patient 4 sibling 1 | Patient 5 sibling 2 | Patients 6, 7, 8 3 siblings | Patient 9 | Patient 10 | Patients 11, 12 2 siblings | Patient 13 |
|---|---|---|---|---|---|---|---|---|---|---|
Gender/Age | Female/29 years (deceased) | Male/38 years | Female/34 years | Male/7 years | Female/5.5 years | 2 Females, 1 Male | Male/9.5 years | Female/14 years | Female/7.8 years, Male/6 years | Male/29 years |
Origin | Switzerland | Switzerland | Switzerland | Turkey | Turkey | Palestine | Switzerland | Switzerland/Netherlands | Italy/Switzerland | Switzerland |
Variant | KIF7 Mother: c.423_428delACATGT heterozygous carrier, p.(Val142_His143del) | KIF7 c.[2593-3 C>G]; [3001 C>T], p.[(?)];[(Gln1001*)] | KIF7 c.[2593-3 C>G]; [2593-3 C>G], p.[(?)];[(?)] | KIF7 c.[1643dupC]; [1643dupC], p.[(Arg549Alafs*40)]; [(Arg549Alafs*40)] | KIF7 c.[1643dupC]; [1643dupC], p.[(Arg549Alafs*40)]; [(Arg549Alafs*40)] | KIF7 c.[2164G>T]; [2164 G>T], p.[(Glu722*)]; [(Glu722*)] | C5orf42 c.[493delA];[4643 A>G], p.[(Ile165Tyrfs*17)]; [(Asp1548Gly)] | C5orf42 c.[2624 C>T];[5733 T>G], p.[(Ser875Phe)];[(Tyr1911*)] | C5orf42 c.[4313delA];[5348 C>A], p.[(Glu1439Lysfs*19)]; [(Ala1783Asp)] | SHH c.1282delG, p.(Ala428Profs*15)de novo |
Macrocephaly | Relative | Relative | + | + | + | + | Borderline | Borderline | Relative | + |
Prominent/broad forehead | + | + | + | + | + | + | + | + | + | + |
Hypertelorism | + | + | + | + | + | + | + | + | + | + |
Depressed/wide nasal bridge | + | + | + | + | + | + | + | + | + | + |
Upper limb | Left postaxial polydactyly | Bilateral postaxial polydactyly | Bilateral postaxial polydactyly | Bilateral postaxial polydactyly | Bilateral postaxial polydactyly | ‒ | Right bony duplication of the last phalanx of the 5th finger | ‒ | ‒ | ‒ |
Lower limb | Bilateral duplication of hallucal phalanges and deformed big toes | Bilateral hallux duplication, postaxial polydactyly, partial 2–3 syndactyly | ‒ | Bilateral hallux duplication, postaxial polydactyly, | Bilateral broad hallux, postaxial polydactyly | ‒ | Left bony duplication of big toe | Bilateral partial duplication of big toes | ‒ | ‒ |
Left: partial 2-3 syndactyly | Left partial 2–3 syndactyly | |||||||||
Right: partial 1–2 syndactyly | ||||||||||
Brain anomalies | CT scan: agenesis of CC | CT scan: agenesis of CC | CT scan: severe hypoplasia of CC, large asymmetrical cisterna magna and arachnoidal cyst | MRI: dysgenesis of CC, MTS, wide ventricles, hypotrophy of the cerebellar hemispheres | MRI: agenesis of CC, MTS, arhinencephaly and a large interhemispheric cyst | MRI available for two of them: hypoplasia of CC, no MTS | MRI: MTS but normal CC | MRI: MTS but normal CC | MRI: hypoplasia of the cerebellar vermis in both, but no MTS or abnormality of CC | CT scan: absence of CC, internal hydrocephalus, a supratentorial cyst communicating with the lateral ventricles |
Developmental delay/ID | + | + | + | + | + | + | + | + | + | + |
Hypotonia | + | + | + | + | + | + | + | + | + | + |
Seizure | + | + | ‒ | ‒ | ‒ | ‒ | ‒ | ‒ | ‒ | + |
Ocular motor apraxia | ‒ | ‒ | ‒ | ‒ | ‒ | ‒ | + | + | + | ‒ |
Nystagmus/ strabismus | + | + | ‒ | + | ‒ | + | + | + | + | ‒ |
Other features | Downslanting palpebral fissures, epicanthic folds, high, narrow palate, posteriorly angulated, malformed ears, cyanotic spells and repeated respiratory infections in early infancy, severe myopia, lymphoma of oral cavity, deceased at the age of 29 years due to metastasis, had severe ID | Cyanotic spells in early infancy, repeated respiratory infections and seizure during 1st year, small umblical and bilateral inguinal hernias, growth retardation, restlessness, alive at the age of 38 years with severe ID | Upslanting palpebral fissures, thoracic kyphosis, diastasis recti, bilateral hip dislocation, mild myopia, alive at the age of 34 years with mild ID despite the initial severe DD | High-arched palate, dysplastic low set ears, hypertrichosis of forehead and back, postnatal respiratory problem, at 7 years was unable to walk without support and had no expressive speech | Low set ears, high-arched palate, at 5.5 years was unable to walk but could use about 10 words and understand simple verbal commands | Short philtrum | Bilateral epicanthus, narrow philtrum, tented upper lip, anteverted nostrils, congenital stridor due to tricuspid epiglottis and stenosis of distal trachea, GE reflux, pes valgus, central coordination problem, at 9.5 years could walk and showed a mild-moderate ID | Delayed closure of fontanels, short tapering fingers, flexible joints, spastic ankles, hypoplastic labia, ataxia, at 14 years could walk with mild ataxia and was able to speak in sentences and to read on a mild ID level | Full lower lip and short neck in both, calcaneo-valgus deformity in both, mild webbing of fingers and 2nd–3rd toes in the female, ataxia, patient 11 could speak using 4-word sentences since the age of 7 years, patient 12 had only some limited communication with sign language at 6 years | Downslanting palpebral fissures, small nose, chin and ears, a notch in the upper lip, short broad thumbs and halluces, scoliosis, low vision, at 29 years could not walk independently and had severe ID |
