Table 1:
Clinical features of proband 1 and proband 2 in comparison to the previously reported patients.
| Current study | JM Bain et al., 2016 | Harmsen et al., 2019 | |||||||
|---|---|---|---|---|---|---|---|---|---|
| Proband | 1 | 2 | 1 | 2 | 3 | 4 | 5 | 6 | 1 |
| Gender | Male | Female | Female | Female | Female | Female | Female | Female | Male |
| Age (years) | 9 | 6 | 34 | 8 | 4 | 6 | 21 | 2 | 3 |
| Variant | c.616 C>T | c.616C>T | c.616C>T | c.616C>T | c.617G>A | c.626C>T | c.616C>T | c.616C>T | c. 617G>A |
| Birth weight | 1.7 kg (−3 to −4 SD) | 2.75 kg (−1 to −2 SD) | Not available | 2.6 kg (−1 to −2 SD) | 2.7 kg (−1 to −2 SD) | 2.9 kg (−1 SD) | 3.9 kg (+1 to +2 SD) | Not available | 3.92 kg (+1 to +2 SD) |
| Weight | 19 kg (−3 SD) | 14.5 kg (−2 to −3 SD) | 56 kg (0 to −1 SD) | 20 kg at 6 years (normal) | Not available | 11.8 kg (−4 to −5 SD) | 42.5 kg at 19 years (−2 to −3 SD) | Not available | Not available |
| Length | 115cm (−3 to −4 SD) | 103 cm (−2 to −3 SD) | 154 cm (−1 to −2 SD) | Not available | Not available | 104 cm (−2 to −3 SD) | 159.8 cm at 19 years (−1 SD) | Not available | Not available |
| Head circumference | 48 cm (−2 SD) | 48 cm (−1 to −2 SD) | 48 cm at 7 years (−1 to −2 SD) | 51 cm at 6.5 years (normal) | Not available | 46.5 cm (−2 to −3 SD) | 55 cm at 19 years (normal) | 46 cm (−1 to 2 SD) | 45.6 cm (−2 to 3 SD) |
| Developmental delay | + | + | + | + | + | + | + | + | + |
| Intellectual disability | + | + | + | + | + | + | + | + | + |
| Regression | + | + | + | − | + | + | − | − | − |
| Autism spectrum disorder | − | − | + | + | − | − | + | − | − |
| Seizures | + | − | + | + | − | + | − | − | − |
| Speech | Absent | Absent | Single words and short sentences achieved at 7 years | Absent | Not available | Few words | Speaking in sentences achieved at 8 years | Absent (babbles) | Absent |
| Tone | Hypotonia | Hypotonia | Truncal hypotonia and limbs hypertonia | Hypotonia | Hypotonia | Hypotonia | Hypotonia | Hypotonia | Axial hypotonia |
| Skin hyperextensibility | + | + | − | − | − | − | + | − | − |
| Joint hypermobility | + | + | − | − | − | − | + | − | − |
| Facial features | Hypertelorism, medial flared eyebrow, ,short philtrum, thick vermillion of upper and lower lips, high arched palate, ptosis | Hypertelorism, short philtrum | Hypotelorism, high narrow nasal bridge, wide mouth, full lips | Bilateral epicanthal folds, midface hypoplasia, almond shaped eyes | Short palpebral fissures | Hypertelorism | Mild micrognathia, high arched palate | Concave eyebrows, fissure in the upper lip | Mild facial dysmorphism with almond-shaped eyes |
| Skeletal abnormalities | Scoliosis mild, bilateral 5th digit clinodactyly, proximally placed thumb | Long slender fingers | Lordosis, bilateral femoral osteotomies, arachnodactyly | − | Pes planus | Talus valgus | Thoracolumbar scoliosis, pectus carinatum, pes planus, joint hypermobility, elongated fingers | − | Scoliosis |
| Brain MRI | Normal | Lipoma in Corpus callosum region | Normal | Cerebellar vermis hypoplasia | Not available | Normal | Normal | Distorted cerebellar vermis | Normal |
| Other findings | Stereotypic hand flapping, tremors while trying to hold objects | Involuntary movements | Abnormal gait, ankle clonus, attention deficit hyperactivity disorder, obsessive-compulsive disorder | Ataxia, mild hearing loss, anemia, epistaxis, constipation | Gastroesophageal reflux disease, hand flapping | Incoordination, Failure to thrive, walks with support, feeding difficulty, anxiety, sensory issues, atrial septal defect and mitral valve prolapse, fetal finger pads Incoordination | Attention deficit hyperactivity disorder, mitral valve prolapse, mitral regurgitation, gastroesophageal reflux disease | Dystonia of left hand, Dyspraxia, feeding difficulty, drooling | Lack of independent movement, spasticity of the extremities, feeding difficulties |