Case Report
Two Novel Variants in the ATRX Gene Associated with Variable Phenotypes
Table 1
Comparison of clinical findings in ATR-X syndrome [
12] and the probands.
| Clinical feature | Incidence reported in ATR-X syndrome | Proband 1 | Proband 2 |
| Profound mental retardation | 95% | Yes | Yes | Characteristic facial features | 94% | Yes | Very subtle dysmorphisms | Skeletal abnormalities | 91% | Yes, Brachydactyly and scoliosis | | HbH inclusions | 87% | No | No | Motor abnormalities such a neonatal hypotonia | 85% | No | Dystonia | Genital abnormalities | 80% | No | No | Microcephaly | 76% | Yes | No | Gut dysmotility | 75% | No | No | Short stature | 66% | No | No | Seizures | 35% | No | Yes - GTC | Cardiac defects | 18% | Situs solitus mesocardia which was normal on follow up | No | Renal and urinary abnormalities | 14% | No | No | Other findings | ā | Hoarse voice, behavioural problems | MRI-minimal degrees of cerebral and cerebellar atrophy, behavioural problems |
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