Evidence map›Paper›PMID 39995633›Full record

ArticleMolecular genetics and metabolism reports2025

A girl with intragenic variants in

Hiroyuki Iijima, Yuko Tsujioka, Yoshiyuki Tsutsumi, Gen Nishimura, Yasushi Okazaki, Kei Murayama, Mitsuru Kubota, Akira Ohtake

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular genetics and metabolism reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

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

8 authors.

Hiroyuki IijimaDepartment of Clinical Genomics & Pediatrics, Faculty of Medicine, Saitama Medical University, Moroyama, Saitama, Japan.
Yuko TsujiokaDepartment of Radiology, Keio University School of Medicine, Tokyo, Japan.
Yoshiyuki TsutsumiDepartment of Radiology, National Center for Child Health and Development, Tokyo, Japan.
Gen NishimuraCenter for Intractable Diseases, Saitama Medical University Hospital, Saitama, Japan.
Yasushi OkazakiDiagnostics and Therapeutic of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan.
Kei MurayamaDiagnostics and Therapeutic of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan.
Mitsuru KubotaDepartment of General Pediatrics & Interdisciplinary Medicine, National Center for Child Health and Development, Tokyo, Japan.
Akira OhtakeDepartment of Clinical Genomics & Pediatrics, Faculty of Medicine, Saitama Medical University, Moroyama, Saitama, Japan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: The human mitochondrial methionyl-tRNA is crucial for mitochondrial translation, serving as both initiator and elongator in polypeptide chains. The Case presentation: A 7-month-old Japanese girl presented with failure to thrive, feeding difficulties, and psychomotor developmental delay. Radiological examination showed generalized skeletal alterations including mild spondylar dysplasia and abnormal ilia, which resembled mucopolysaccharidosis; however, the urinary glycosaminoglycan levels and alpha-L-iduronidase activity in the filter paper blood were normal. At age 33 months, she showed hyperlactatemia, and genetic analysis showed compound heterozygous novel variants (NM_138395.4: c.[277G > A]; [409C > T]: p.([Asp93Asn]; [Arg137Cys])) in the Conclusion: The skeletal phenotype may be a syndromic component of this disorder associated with

Indexed as

Amino-acyl tRNA synthetaseMARS2MitochondriaSpondylar dysplasia

Identifiers

PMID39995633
PMCPMC11847725

What OpenQuestion holds

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Registered trials

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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.