Clinical features of individuals with biallelic variants in MCM7
| Pedigree 1 | |||
| II.2 | II.3 | II.6 | |
| Gender | Male | Female | Male |
| Age (years) | 20 | 18 | 8 |
| Gene | MCM7 | MCM7 | MCM7 |
|
MCM7 variant (NM_005916.4) | g.7:99695841C>T, c.793G>A, p.Ala265Thr | g.7:99695841C>T, c.793G>A, p.Ala265Thr | g.7:99695841C>T, c.793G>A, p.Ala265Thr |
| Head | Microcephaly | Microcephaly | Microcephaly |
| OFC (cm) | 52 (−3.31 SD) | 51 (−2.64 SD) | 50 (−2.07 SD) |
| Body | |||
| Body weight (kg) | 41 (−4.77 SD) | 39 (−3.73 SD) | 20 (−2.82 SD) |
| Height (cm) | 163.5 (−2.51 SD) | 150.5 (−2.36 SD) | 112 (−3.96 SD) |
| Motor development Motor skills Walking Climbing stairs |
Mildly impaired Normal Severely impaired |
Mildly impaired Normal Severely impaired |
Mildly impaired Normal Severely impaired |
| Intellectual disability Speech impairment Daily activities | Severe Severe (unable to form complete sentences) Cannot be performed | Severe Severe (unable to form complete sentences) Cannot be performed Hyperphagia | Severe Severe (unable to form complete sentences) Cannot be performed Repetitive finger movements and clapping |
| Epilepsy | No | No | No |
| Febrile seizures | Yes, at 2 months | Yes, at 2 months | Yes, at 2 months |
| Behavioural problems | Hyperactivity Aggression No toilet training, no self-cleaning Nocturnal incontinence | Hyperactivity Aggression No toilet training, no self-cleaning | Hyperactivity Aggression No toilet training, no self-cleaning Nocturnal incontinence |
| Facial dysmorphism | No | No | Frontal bossing |
| Eye abnormalities | No | No | No |
| Visual impairment | No | No | No |
| Ear abnormalities | No | No | No |
| Hearing impaiment | No | No | No |
| Mouth | No | No | No |
| Teeth abnormalities | No | No | No |
OFC, occipitofrontal head circumference.