Clinical characteristics of GARND were variable across the five autosomal dominant cases. Each case possessed a single unique and new GATAD2Avariant that was not present in their parents.
These disease-causing mutations each being unique and different is a likely factor in the wide range of presentation. This range included issues with the brain, heart, kidney, eye, and other organ systems. The most common features included global developmental delay (GDD; 4/5) and craniofacial dysmorphology (3/5).
GDD was associated with speech delay (4/4) and autistic features (1/4). Structural brain defects were noted in 2/5 cases (ventriculomegaly, thin corpus callosum), although 3/5 cases were not neuroimaged.
Craniofacial dysmorphisms included and enlarged skull (2/3), prominent forehead (2/3), deep set eyes (2/3), broad nasal root (2/3), broad nasal tip (1/3) and wide set eyes (1/3).
Other variable clinical features included; heart defects (2/5), kidney defects (2/5), ophthalmologic defects (2/5); hemi-hypertrophy (2/5); and an imperforate anus (1/5).
Obviously, there is a need for more GARND cases to identify a more unifying clinical presentation if one exists. Our ongoing research hopes to find and report further cases with GATAD2Avariants.
GATAD2A