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	—	Hoarse voice, behavioural problems	MRI-minimal degrees of cerebral and cerebellar atrophy, behavioural problems