This report describes neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, an intellectual developmental disorder that exhibits autosomal recessive inheritance. The human gene implicated is TRAPPC6B, which encodes trafficking protein particle complex subunit 6B, a compone of TRAPP complexes, which are tethering complexes involved in vesicle transport. There is one high-scoring fly ortholog, Dmel\Trs33, for which classical alleles, RNAi-targeting constructs, and alleles caused by insertional mutagenesis have been generated.
Human TRAPPC6B has not been introduced into flies.
Pan-neuronally targeted RNAi knockdown of Dmel\Trs33 resulted in a decrease in distance traveled in a locomotor assay. Some flies additiaonlly exhibit an abnormality in wing posture suggesting defects in innervation of indirect flight muscles.
[updated Feb. 2024 by FlyBase; FBrf0222196]
[NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY; NEDMEBA](https://omim.org/entry/617862)
[TRAFFICKING PROTEIN PARTICLE COMPLEX, SUBUNIT 6B; TRAPPC6B](https://omim.org/entry/610397)
NEDMEBA is an autosomal recessive neurodegenerative disorder characterized by global developmental delay, severe intellectual disability with poor or absent speech and autistic stereotypic behaviors, microcephaly, early-onset generalized seizures, and hypotonia (summary by Marin-Valencia et al., 2018, pubmed:28626029) [from MIM:617862; 2023.02.14]
Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy (NEDMEBA) is caused by homozygous or biallelic mutation in the TRAPPC6B gene on chromosome 14q21. [from MIM:617862; 2023.02.14]
TRAPPC6B is a component of TRAPP complexes, which are tethering complexes involved in vesicle transport (Kummel et al., 2005, pubmed:16025134). [from MIM:610397; 2023.02.14]
Two to one (2 human to 1 Drosophila); TRAPPC6B has one high-scoring Drosophila ortholog, Trs33.
High-scoring ortholog of human TRAPPC6B, moderate scoring ortholog of human TRAPPC6A (1 Drosophila to 2 human).
