The disease due to a faulty ADGRB3 gene is ultrarare, only a single family has been reported. The severity of the condition depends on the degree of impairment of the ADGRB3 gene. For a better understanding, one can think of this gene such as a railway. If both rails are interrupted, the disease is more severe, with features including decreased intelligence, clumsy walking, memory difficulties, tremor, and emotional disturbances such as anxiety and mood instability. If only one rail is interrupted, the features are milder, with normal intelligence, mild anxiety and mood disturbances, insomnia and restless legs during sleep. In the reported family two siblings showed the more severe features (both rails interrupted), and their parents had milder features (one rail interrupted). This is considered by the physicians a peculiar kind of the so called “autosomal recessive inheritance”, where the parents are not healthy carriers, because they show milder features than their affected children/sons/daughters.
ADGRB3