• specific developmental disorder

This report describes intellectual developmental disorder, BCL11A,B-related. The human genes implicated are BCL11A and BCL11B, which encode highly similar C2H2 type zinc-finger proteins. BCL11A is also associated with the intellectual devolopmental disorder Dias-Logan syndrome (MIM:617101), as well as epileptic encephalopathy (Yoshida, et al., 2018, pubmed:28589569) and diabetes mellitus type 2, susceptibility to (postulated), BCL11A-related (FBhh0000477). BCL11B has been associated with intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities (MIM:618092), severe combined immunodeficiency 49 (MIM:618092), and a neurodevelopmental disorder (Qiao, et al, 2019, pubmed:31347296). There is one moderate-scoring fly ortholog, Dmel\Cph, for which multiple genetic reagents, including classical alleles, RNAi-targeting constructs, and alleles caused by insertional mutagenesis have been generated.

Neither BCL11A nor BCL11B have been introduced into flies.

Pan-neuronal RNAi knockdown of Dmel\Cph resulted in locomotor defects in both larvae and adults. Affected larvae exhibit defects in crawling behavior, impairment of odor-associated learning behavior, and an increase in synaptic branching at the neuromuscular junction. Adults are uncoordinated and exhibit bang-sensitive seizure behavior, as well as severe locomotor impairment.

[updated Nov. 2024 by FlyBase; FBrf0222196]