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

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Open Access
Article Type Case Report
Subject Medicine Group
OCLC JBRES Record
Enrique Nogueira*, Beatriz del Olmo, Concepcion Lobo, Genesis Vizuete and Carmen Garma
Issue: Volume3-Issue9
Pages: 1012-1015
Received: 2022-08-27
Accepted: 2022-09-04
Published: 2022-09-07

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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© 2022 Nogueira E, et al. Distributed under Creative Commons CC-BY 4.0 Creative CommonsAttribution

How to cite this article

Nogueira E, del Olmo B, Lobo C, Vizuete G, Garma C. A Neurodevelopmental Disorder with Intellectual Disability and Autism due to MAP7D3 Haploinsufficiency. J Biomed Res Environ Sci. 2022 Sep 07; 3(9): 1012-1015. doi: 10.37871/jbres1546, Article ID: JBRES1546, Available at: https://www.jelsciences.com/articles/jbres1546.pdf

Subject area(s)

Brain Disorders

References

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