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