What is GAND?
GAND stands for GATAD2B-associated neurodevelopmental disorder. The GATAD2B gene is located on chromosome 1 (at 1q21.3) and is an important gene for normal cognitive development. Although there are only a few published cases, most patients so far identified have had intellectual disability, low muscle tone, limited speech, strabismus, and distinct physical characteristics, including tubular-shaped nose with broad nasal tip, short philtrum, and sparse hair.
Nearly all cases of this disorder occur through a de novo (i.e., new) mutation in the GATAD2B gene and are, in these cases, not inherited from either parent. However, affected siblings are possible and have been noted in identical twins and in rare cases when one of the parents has low-level mosaicism, meaning that a small percentage of the cells within that person have a different genetic makeup. Children of individuals with GAND would have a 50% chance of sharing the disorder.
If you know a patient with a GATAD2B mutation, or think you do, please contact us.