Table 1.
Genetic and clinical characteristics of patients with biallelic FRA10AC1 variants
| Family/Patient | 1/1 | 2/2 | 3/3–1 | 3/3–2 | 3/3–3 |
|---|---|---|---|---|---|
| General information | |||||
| Gender | Female | Female | Male | Male | Male |
| Consanguinity | First degree cousins | First degree cousins | Second degree cousins | Second degree cousins | Second degree cousins |
| Ethnicity | Arabic | Arabic | Arabic | Arabic | Arabic |
| FRA10CA1 variant | NG_016832.1: | NM_145246.5: | NM_145246.5: | NM_145246.5: | NM_145246.5: |
| g.4656_7575del | c.561_562insTTTA | c.494_496del | c.494_496del | c.494_496del | |
| p.? | p.(Ser188Phefs*6) | p.(Glu165del) | p.(Glu165del) | p.(Glu165del) | |
| Last examination | |||||
| Age | 3 years 1 month | 9 years | 15 years | 10 years | 7 years |
| Height in cm (z-score) | 85 (−2.8) | 109 (−4.3) | 134 (−4.8) | 113.5 (−4.2) | 109 (−2.9) |
| Weight in kg (z-score) | 9.4 (−3.4) | 15 (−5.3) | 32 (−3.9) | 20.5 (−3.6) | 19 (−1.8) |
| OFC in cm (z-score) | 45 (−4.1) | 47 (−4.8) | 50.3 (−3.8) | 49.4 (−3.1) | 50 (−2.0) |
| Development | |||||
| Motor delay | Severe, nonambulatory | Moderate, walking at 3 years | – | During infancy | – |
| Intellectual disability | Profound | Profound, IQ 35 | Mild, IQ 68 | Borderline, IQ 77 | Borderline, IQ 77 |
| Neurological and psychiatric features | |||||
| Muscular hypotonia | + (severe) | + | + | + | + |
| Seizures | + | – | – | – | – |
| Behavioural problems | – | + | – | – | – |
| Brain abnormalities (brain ultrasound, MRI) | Corpus callosum agenesis; mild hydrocephalus internus | Partial agenesis of corpus callosum; colpocephaly; unilateral retroorbital cyst | Thin stretched corpus callosum | Thin stretched corpus callosum | Thin stretched corpus callosum |
| Craniofacial dysmorphism | + | + | + | + | + |
| Other anomalies | |||||
| Abnormality of the skeletal system | Short sternum; contracture of left elbow; ulnar deviation of left hand; proximal placement of thumbs; bilateral 5th finger clinodactyly | Bilateral 5th finger clinodactyly | Clinodactyly of 4th and 5th toes | Clinodactyly of 4th and 5th toes | Clinodactyly of 4th and 5th toes |
| Other | Feeding problems; gastric feeding tube; recurrent airway infections | Feeding problems; recurrent airway infections in early childhood | Growth hormone deficiency; anaemia | Growth hormone deficiency | – |
+/– = feature present/absent; IQ = intelligence quotient; OFC = occipital frontal circumference.