Clinical whole Exome Sequencing Reveals Novel Homozygous Missense Variant in the

Hala Abubaker Bagabir, Angham Abdulrhman Abdulkareem, Osama Yousef Muthaffar, Bader H Shirah, Muhammad Imran Naseer

Abstract read

In one paragraph

Article in Pakistan journal of medical sciences, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it

0cells of the map it votes in

1citing papers in PubMed

–field-weighted citation impact

1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

Exome Sequencing uncovers Homozygous Stop-Gained variant in thePakistan journal of medical sciences · 2026
Article

4 · The record

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PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

5 authors.

Hala Abubaker BagabirHala Abubaker Bagabir Physiology Department, Faculty of Medicine in Rabigh, King Abdulaziz University, Jeddah, Saudi Arabia.

Angham Abdulrhman AbdulkareemAngham Abdulrhman Abdulkareem Center of Excellence in Genomic Medicine Research, Faculty of Science, Department of Biochemistry, King Abdulaziz University, Jeddah, Saudi Arabia.

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

Bader H ShirahBader H. Shirah Department of Neuroscience, King Faisal Specialist Hospital & Research Centre, Jeddah, Saudi Arabia.

Muhammad Imran NaseerMuhammad Imran Naseer Center of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Saudi Arabia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background & Objective: Autosomal recessive cerebellar ataxias (ARCA) are rare heterogenous neurodegenerative disorders characterized by degeneration of the cerebellum and spinal cord with an early onset before the age of 20 years. PMPCA (MIM: 613036), is a key enzyme in mitochondrial protein processing which is critical for cell survival and growth. Our objective was to investigate Peptidase, Mitochondrial Processing Subunit Alpha (PMPCA) mutations linked with Spinocerebellar ataxia, autosomal recessive 2 (SCAR2). Method: In the current study, Whole Exome Sequencing (WES) was done followed by Sanger sequencing for the validation of the WES results. Results: WES results identified a novel homozygous variant, NM_015160.2: c.802C>T p.(Arg268Trp) in Conclusions: Identified phenotype in our case was similar as previously described for SCAR2 related conditions. To our knowledge, this is the first reported mutation in

Indexed as

Developmental DelayHomozygousPMPCASaudi ArabiaSCAR2

Identifiers

PMID39554679

DOI10.12669/pjms.40.10.10474

PMCPMC11568725

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.