A Neurodevelopmental Disorder with Intellectual Disability and Autism due to MAP7D3 Haploinsufficiency

We report on a young boy with neurodevelopmental disorder who is carrier of novel frameshift mutation in gene MAP7D3 (MAP7 domain containing 3) Xq26.3. The protein encoded by this belongs to the MAP7 (microtubuleassociated 7) family that proposed regulate kinesin-1 (KIF5B)-dependent intracellular transport, acting as Microtubule (MT)-tethered recruitment factors and activators kinesin [1-3]. And other MT-associated proteins conceivable involvement neuronal morphogenesis therefore disorders.