Evidence map›Paper›PMID 40317698›Full record

ArticleAnnals of clinical and translational neurology2025

Compound Heterozygous MRPS14 Variants Associated With Leigh Syndrome.

Maria Gabriela Otero, Christina Freeman, Ruchi Shah, Renkui Bai, Hong Cui, Marian Castro, Zachary Myers, Eric Choy, Derek Chan, Molly Easter and 6 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Annals of clinical and translational neurology, 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

16 authors.

Maria Gabriela OteroBoard of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, California, USA.
Christina FreemanBoard of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, California, USA.
Ruchi ShahBiomedical Sciences, Cedars-Sinai Medical Center, Los Angeles, California, USA.
Renkui BaiGeneDx, Gaithersburg, Maryland, USA.
Hong CuiPediatric Congenital Heart Program at Cedars-Sinai Guerin Children's and Smidt Heart Institute, Cedars-Sinai Medical Center, Los Angeles, California, USA.
Marian CastroBoard of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, California, USA.
Zachary MyersBoard of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, California, USA.
Eric ChoyBoard of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, California, USA.
Derek ChanBoard of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, California, USA.
Molly EasterBoard of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, California, USA.
Sophia Y ZhaoBoard of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, California, USA.
Madeline BabrosBoard of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, California, USA.
Ruchi GargPediatric Congenital Heart Program at Cedars-Sinai Guerin Children's and Smidt Heart Institute, Cedars-Sinai Medical Center, Los Angeles, California, USA.
Matthew DeardorffDepartment of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, California, Los Angeles, USA.
Franklin MoserDivision of Clinical Neuroradiology and Interventional Neuroradiology, Cedars-Sinai Medical Center, Los Angeles, California, USA.
Tyler Mark PiersonBoard of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, California, USA.ORCID https://orcid.org/0000-0003-1985-3671

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

MRPS14 (uS14m) is a nuclear-encoded ribosomal protein important for mitochondria-specific translation. To date, only a single individual with a recessive MRPS14-related disorder (also known as COXPD38) has been reported. We report an additional subject possessing novel compound heterozygous MRPS14 variants (p.Asp37Asn, p.Asn60Asp). The subject presented at 2 years with motor and language delays associated with elevated serum lactate/alanine levels. Brain MRI showed a constellation of signal abnormalities consistent with Leigh Syndrome, while MR spectroscopy had an increased lactate peak. Western blots of fibroblasts showed decreased MRPS14 and COX2 protein levels. These results support the pathogenicity of the MRPS14 variants identified here.

Indexed as

Leigh Syndromemitochondrial ribosomeMRPS14oxidative phosphorylation

Identifiers

PMID40317698
PMCPMC12343306

What Socratic holds

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LicenceCC BY
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Registered trials

None linked

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 Socratic graph.