GATAD2B-associated Neurodevelopmental Disorder or GAND characterized by low tone in infancy, subjective feeding issues (that can even cause accumulation of amniotic fluid during pregnancy), minor heart defects, eye movement and positioning issues, motor delays, intellectual disability, apraxia of speech, seizures and an enlarged head with a large broad forehead.
GAND is the result of one of an individual’s two copies of the GATAD2B gene possessing a variant that blocks the function of the GATAD2B protein.
The disorder currently has about 400-500 known cases identified worldwide (May 2025).
Seizures can be either start at a distinct location in the cerebral cortex (focal) or start with the whole cerebral cortex. The seizures are typically responsive to medication, although a few GAND individuals have difficult to treat seizures.
Minor heart defects tend to involve the aortic valve (two-leaflet instead of three-leaflet valves) in 8-10% of the initially reported GAND cohort (2% of the general population have this defect), two of whom required therapeutic intervention to widen the opening of these two-leaflet valves.
There is a somewhat broad range of intellectual disability in GAND, with some children having significant cognitive disability, while others can perform well with basic tasks. Speech is a limiting feature, with childhood apraxia of speech (CAS, a combination of mechanical difficult forming words and the thought process behind generating language) being seen in all GAND individuals. CAS is also associated with other oro-mechanical issues in GAND children, for example increased amniotic fluid in utero, neonatal feeding issues, and excessive drooling.
Currently, the Pierson laboratory have a number of ongoing clinical and basic research studies focused on GAND and other NuRD-related disorders (including GARND, the NuRDopathy associated with the GATAD2A gene).
Please contact Dr. Tyler Mark Pierson at tyler.pierson@cshs.org for criteria and more information about the study.
Family Organization Sites:
https://www.gatad2b.org
https://www.gandaiduk.org
GATAD2B