Mutated neuron navigator 3 as a candidate gene for a rare neurodevelopmental disorder-Reference-Cited by-同舟云学术

Mutated neuron navigator 3 as a candidate gene for a rare neurodevelopmental disorder

Published:2024-07 Issue:7 Volume:12 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Molec Gen & Gen Med

Author:

Umair Muhammad¹,Alharbi Meshael¹,Aloyouni Essra¹,Al Abdulrahman Abdulkareem¹,Aldrees Mohammed¹,Al Tuwaijri Abeer¹²,Bilal Muhammad³,Alfadhel Majid¹⁴^ORCID

Affiliation:

1. Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC) King Saud Bin Abdulaziz University for Health Sciences (KSAU‐HS), Ministry of National Guard Health Affairs (MNGH) Riyadh Saudi Arabia

2. Clinical Laboratory Sciences Department College of Applied Medical Sciences, KSAU‐HS Riyadh Saudi Arabia

3. Department of Pathology and Laboratory Medicine Aga Khan University Karachi Pakistan

4. Genetics and Precision Medicine Department King Abdullah Specialized Children Hospital (KASCH), MNGHA Riyadh Saudi Arabia

Abstract

AbstractBackgroundNeuron 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.MethodsWe 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.ResultsWES 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.ConclusionFor the time, we associate a bi‐allelic variant in the NAV3 gene causing NDD in humans.

Funder

King Abdullah International Medical Research Center

Publisher

Wiley

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.2473

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