%0 Journal Article
%T Mutated neuron navigator 3 as a candidate gene for a rare neurodevelopmental disorder.
%A Umair M
%A Alharbi M
%A Aloyouni E
%A Al Abdulrahman A
%A Aldrees M
%A Al Tuwaijri A
%A Bilal M
%A Alfadhel M
%J Mol Genet Genomic Med
%V 12
%N 7
%D 2024 Jul
%M 39038237
%F 2.473
%R 10.1002/mgg3.2473
%X 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.
CONCLUSIONS: For the time, we associate a bi-allelic variant in the NAV3 gene causing NDD in humans.