Mutated neuron navigator 3 as a candidate gene for a rare neurodevelopmental disorder
Document Type
Article
Department
Pathology and Laboratory Medicine
Abstract
Background: Neuron navigator 3 (NAV3) is characterized as one of the neuron navigator family (NAV1, NAV2, NAV3) proteins predominantly expressed in the nervous system. The NAV3-encoded protein comprises a conserved AAA and coiled-coil domains characteristic of ATPases, which are associated with different cellular activities.
Methods: We describe a Saudi proband presenting a complex recessive neurodevelopmental disorder (NDD). Whole exome sequencing (WES) followed by Sanger sequencing, 3D protein modeling and RT-qPCR was performed.
Results: WES revealed a bi-allelic frameshift variant (c.2604_2605delAG; p.Val870SerfsTer12) in exon 12 of the NAV3 gene. Furthermore, RT-qPCR revealed a significant decrease in the NAV3 mRNA expression in the patient sample, and 3D protein modeling revealed disruption of the overall secondary structure.
Conclusion: For the time, we associate a bi-allelic variant in the NAV3 gene causing NDD in humans.
Publication (Name of Journal)
Molecular Genetics & Genomic Medicine
DOI
10.1002/mgg3.2473
Recommended Citation
Umair, M.,
Alharbi, M.,
Aloyouni, E.,
Abdulrahman, A. A.,
Aldrees, M.,
Tuwaijri, A. A.,
Bilal, M.,
Alfadhel, M.
(2024). Mutated neuron navigator 3 as a candidate gene for a rare neurodevelopmental disorder. Molecular Genetics & Genomic Medicine, 12(7), e2473.
Available at:
https://ecommons.aku.edu/pakistan_fhs_mc_pathol_microbiol/1519
Comments
Pagination are not provided by the author/publisher.