Exome Sequencing uncovers Homozygous Stop-Gained variant in the

Absarul Haque, Mohammad Zubair Alam, Fehmida Bibi, Osama Yousef Muthaffar, Mahmood Rasool, Muhammad Imran Naseer

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Article in Pakistan journal of medical sciences, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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6 authors.

Absarul HaqueAbsarul Haque King Fahd Medical Research Centre, Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah, Saudi Arabia.

Mohammad Zubair AlamMohammad Zubair Alam King Fahd Medical Research Centre, Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah, Saudi Arabia.

Fehmida BibiFehmida Bibi King Fahd Medical Research Centre, Special Infectious Agents Unit-BSL3, King Abdulaziz University, Jeddah, Saudi Arabia.

Osama Yousef MuthaffarOsama Yousef Muthaffar Department of Pediatrics, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.

Mahmood RasoolMahmood Rasool Institute of Genomic Medicine Sciences (IGMS), Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah, Saudi Arabia.

Muhammad Imran NaseerMuhammad Imran Naseer Institute of Genomic Medicine Sciences (IGMS), Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah, Saudi Arabia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background &Objective: Spectrin Repeat-Containing Nuclear Envelope Protein 1 (SYNE1) is important gene for maintaining neuronal structure and function, particularly in the cerebellum, the brain region responsible for coordinating movement. The genetic mutation in Methodology: The study was done in the Center of Excellence in Genomic Medicine and Research (CEGMR) during 2023-2024. Firstly, Whole Exome Sequencing (WES) was carried out to identify the mutation, followed by Sanger sequencing to validate the WES results. Results: WES identified a novel homozygous stop-gained variant, NM_182961.3:c.352C>T (p.Arg118Ter), in the Conclusions: The patient's phenotype was consistent with previously reported ARCA1 and SCAR8. To our knowledge and based on the currently available literature, this may represent the first reported Saudi family with a

Indexed as

ARCA1 and SCAR8AtaxiaSaudi ArabiaSYNE1

Identifiers

PMID42487839

DOI10.12669/pjms.42.7.15376

PMCPMC13389931

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