What is GAND?
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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. Most patients so far identified have had intellectual disability, low muscle tone, apraxia of speech, strabismus, macrocephaly, and distinct physical characteristics, including a high wide forehead/frontal bossing, tubular-shaped nose with broad nasal tip, and short philtrum. Many of these children have experienced feeding difficulties, particularly in infancy.
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, please contact us. |
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