Abstract & Article Details
Case Report • Vol.3, Issue 9 • ISSN: 2766-2276 • Open Access • CC BY 4.0
A Neurodevelopmental Disorder with Intellectual Disability and Autism due to MAP7D3 Haploinsufficiency
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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Article Information
| Journal | Journal of Biomedical Research & Environmental Sciences (JBRES) |
|---|---|
| ISSN | 2766-2276 |
| DOI | DOI 10.37871/jbres1546 |
| Volume / Issue | Vol. 3, Issue 9 |
| Published | September 7, 2022 |
| Article Type | Case Report |
| Pages | 1012-1015 |
| License | CC BY 4.0 — Open Access |
| Publisher | SciRes Literature LLC, Sheridan, WY, USA |
| Language | English |
Published under CC BY 4.0 — free to share, copy, adapt, and redistribute with attribution.
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