Title

Identification of de novo LRP6 (c.1846A>G, p.Ile616Val) mutation in Saudi family with a rare selective tooth agenesis-7

Authors

Sajjad Karim¹, Shimaa Ibrahim², Abdullah Almushayt², Nada Bamashmous², Rabab Aljawi², Lolo Almansour², Riman Gotbi³, Afnan Omar Bahmaid¹, Noura Yaslam Bagtian¹, Peter Natesan Pushparaj¹,* & Zeenat Mirza⁴, ⁵,*

Affiliation

¹Department of Genomic Medicine Sciences, King Abdulaziz University, Jeddah, Saudi Arabia; ²Department of Pediatric Dentistry, King Abdulaziz University, Jeddah, Saudi Arabia; ³Department of Internal Medicine, International Medical Center, Jeddah, Saudi Arabia; ⁴Eco Health Unit, King Fahd Medical Research Center, King Abdulaziz University, Jeddah, Saudi Arabia; ⁵Department of Medical Laboratory Sciences, Faculty of Applied Medical Science, King Abdulaziz University, Jeddah, Saudi Arabia; *Corresponding author

Email

Sajjad Karim - E-mail: skarim1@kau.edu.sa
Shimaa Ibrahim - E-mail: smohamedibrahim@stu.kau.edu.sa
Abdullah Almushayt - E-mail: aalmushayt@kau.edu.sa
Nada Bamashmous - E-mail: nobamashmous@kau.edu.sa
Rabab Aljawi - E-mail: raljawi@kau.edu.sa
Lolo Almansour - E-mail: lalmansour@kau.edu.sa
Riman Gotbi - E-mail: rigotbi@imc.med.sa
Afnan Omar Bahmaid - E-mail: aowbahmad@kau.edu.sa
Noura Yaslam Bagtian - E-mail: nysbaktian@kau.edu.sa
Peter Natesan Pushparaj - E-mail: pnatesan@kau.edu.sa
Zeenat Mirza - E-mail: zmirza1@kau.edu.sa

Article Type

Research Article

Date

Received September 1, 2026; Revised September 30, 2026; Accepted September 30, 2026, Published September 30, 2026
 

Abstract

Congenital dental anomalies with abnormal number, structure and position are a major problem in humans, where identifying causative variants is a concern. Whole-exome sequencing was performed to detect disease associated variants in Saudi patient with dental anomalies in Saudi Arabia and validated by Sanger sequencing. We identified a de novo heterozygous variant in the LRP6 gene (c.1846A>G, p.Ile616Val) in a thirteen-year-old Saudi girl with dental anomalies with classical selective tooth agenesis-7. Evolutionary conserved analysis showed presence of detected mutation in a conserved area and 3D analysis revealed structural changes because of the mutation. Thus, data show a clinically significant variant in the LRP6 gene associated with selective tooth agenesis-7 in a patient, representing the first such report from Saudi Arabia.

Keywords

Selective tooth agenesis-7, whole exome sequencing, LRP6, bioinformatics, mutation, annotation, features, including hypodontia involving the permanent dentition, ankylosed primary teeth, rootless upper first and second premolars bilaterally

Citation

Karim et al. Bioinformation 22(9): 6008-6014 (2026)

Edited by

P Kangueane

ISSN

0973-2063

Publisher

Biomedical Informatics

License

This is an Open Access article which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. This is distributed under the terms of the Creative Commons Attribution License.